A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-12

AUTHORS

Amir MI Babiker, Iman Al Gadi, Nasir AM Al-Jurayyan, Abdulrahman MH Al Nemri, AliAbdu N Al haboob, Ahmed Amer Al Boukai, Ali Al Zahrani, Hanan Ahmed Habib

ABSTRACT

BACKGROUND: Rickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant rickets and 25 hydroxylase deficiency rickets. Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern, and is caused by mutations in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. We report here a new mutation in CYP27B1, which lead to Vitamin D dependent rickets type 1. CASE PRESENTATION: We report on a 13-month-old Arabic Saudi girl with Vitamin D dependent rickets type 1 presented with multiple fractures and classic features of rickets. A whole exome sequencing identified a novel pathogenic missense mutation (CYP27B1:Homozygous c.1510C > T(p.Q504X)) which results in a protein truncating alteration. Both parents are heterozygous carriers of the mutation. Based on data search in Human Gene Mutation Database, 63 CYP27B1 alterations were reported: only 28.6% are protein truncating (5 nonsense, 13 frameshift insertions/deletions, 0 gross deletions), while 61.9% are non-truncating (38 missense, 1 small in-frame insertions/deletion), and 9.5% are possible protein-truncating (5 splice, 1 regulatory). CONCLUSION: The deleterious effect of this alteration, which was the only mutation detected in the CYP27B1 common gene of Vitamin D dependent rickets type 1 in the proband, and its autosomal recessive inheritance fashion, both support a pathogenic nature of this mutation as the cause of Vitamin D dependent rickets type 1. More... »

PAGES

783

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1756-0500-7-783

DOI

http://dx.doi.org/10.1186/1756-0500-7-783

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1000512185

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25371233


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "25-Hydroxyvitamin D3 1-alpha-Hydroxylase", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Arabs", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Calcium", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Mutational Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Databases, Genetic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Dietary Supplements", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Familial Hypophosphatemic Rickets", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Predisposition to Disease", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Heredity", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Homozygote", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation, Missense", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Saudi Arabia", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Vitamin D", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "King Saud University", 
          "id": "https://www.grid.ac/institutes/grid.56302.32", 
          "name": [
            "Pediatric Department, College of Medicine and King Khalid University Hospital, Riyadh, Saudi Arabia", 
            "Pediatric Endocrine Division, King Khalid University Hospital and King Saud University, Riyadh, Saudi Arabia", 
            "Pediatric Department, College of Medicine, King Khalid University Hospital and King Saud University, PO Box 2925, 11461, Riyadh, Saudi Arabia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Babiker", 
        "givenName": "Amir MI", 
        "id": "sg:person.0763630400.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0763630400.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King Saud University", 
          "id": "https://www.grid.ac/institutes/grid.56302.32", 
          "name": [
            "Pediatric Department, College of Medicine and King Khalid University Hospital, Riyadh, Saudi Arabia", 
            "Pediatric Endocrine Division, King Khalid University Hospital and King Saud University, Riyadh, Saudi Arabia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Al Gadi", 
        "givenName": "Iman", 
        "id": "sg:person.010145572305.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010145572305.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King Saud University", 
          "id": "https://www.grid.ac/institutes/grid.56302.32", 
          "name": [
            "Pediatric Department, College of Medicine and King Khalid University Hospital, Riyadh, Saudi Arabia", 
            "Pediatric Endocrine Division, King Khalid University Hospital and King Saud University, Riyadh, Saudi Arabia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Al-Jurayyan", 
        "givenName": "Nasir AM", 
        "id": "sg:person.016316665564.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016316665564.63"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King Khalid University Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459455.c", 
          "name": [
            "Pediatric Department, College of Medicine and King Khalid University Hospital, Riyadh, Saudi Arabia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Al Nemri", 
        "givenName": "Abdulrahman MH", 
        "id": "sg:person.012107467315.50", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012107467315.50"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King Khalid University Hospital", 
          "id": "https://www.grid.ac/institutes/grid.459455.c", 
          "name": [
            "Pediatric Department, College of Medicine and King Khalid University Hospital, Riyadh, Saudi Arabia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Al haboob", 
        "givenName": "AliAbdu N", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King Saud University", 
          "id": "https://www.grid.ac/institutes/grid.56302.32", 
          "name": [
            "Radiology and Medical Imaging Department, King Khalid University Hospital and King Saud University, Riyadh, Saudi Arabia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Al Boukai", 
        "givenName": "Ahmed Amer", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King Saud University", 
          "id": "https://www.grid.ac/institutes/grid.56302.32", 
          "name": [
            "Pathology Department, King Khalid University Hospital and King Saud University, Riyadh, Saudi Arabia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Al Zahrani", 
        "givenName": "Ali", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King Saud University", 
          "id": "https://www.grid.ac/institutes/grid.56302.32", 
          "name": [
            "Pathology Department, King Khalid University Hospital and King Saud University, Riyadh, Saudi Arabia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Habib", 
        "givenName": "Hanan Ahmed", 
        "id": "sg:person.01207726377.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207726377.43"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/ncb0602-e144", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026304646", 
          "https://doi.org/10.1038/ncb0602-e144"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncb0602-e144", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026304646", 
          "https://doi.org/10.1038/ncb0602-e144"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0402490101", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026792044"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/pl00009639", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027354203", 
          "https://doi.org/10.1007/pl00009639"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1677/jme.0.0250141", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046680922"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.rdc.2012.03.009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047931759"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0168-9525(98)01658-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051140752"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1542/peds.2007-1894", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051273077"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302156", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058609741"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2014-12", 
    "datePublishedReg": "2014-12-01", 
    "description": "BACKGROUND: Rickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant rickets and 25 hydroxylase deficiency rickets. Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern, and is caused by mutations in the CYP27B1 gene encoding the 1\u03b1-hydroxylase enzyme. We report here a new mutation in CYP27B1, which lead to Vitamin D dependent rickets type 1.\nCASE PRESENTATION: We report on a 13-month-old Arabic Saudi girl with Vitamin D dependent rickets type 1 presented with multiple fractures and classic features of rickets. A whole exome sequencing identified a novel pathogenic missense mutation (CYP27B1:Homozygous c.1510C > T(p.Q504X)) which results in a protein truncating alteration. Both parents are heterozygous carriers of the mutation. Based on data search in Human Gene Mutation Database, 63 CYP27B1 alterations were reported: only 28.6% are protein truncating (5 nonsense, 13 frameshift insertions/deletions, 0 gross deletions), while 61.9% are non-truncating (38 missense, 1 small in-frame insertions/deletion), and 9.5% are possible protein-truncating (5 splice, 1 regulatory).\nCONCLUSION: The deleterious effect of this alteration, which was the only mutation detected in the CYP27B1 common gene of Vitamin D dependent rickets type 1 in the proband, and its autosomal recessive inheritance fashion, both support a pathogenic nature of this mutation as the cause of Vitamin D dependent rickets type 1.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/1756-0500-7-783", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1039457", 
        "issn": [
          "1756-0500"
        ], 
        "name": "BMC Research Notes", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "7"
      }
    ], 
    "name": "A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report", 
    "pagination": "783", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "027019bca4e4b5b675581c8bfe1a1d6d61344c9f7d84ff6791797dc0b448bf2b"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "25371233"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101462768"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/1756-0500-7-783"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1000512185"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/1756-0500-7-783", 
      "https://app.dimensions.ai/details/publication/pub.1000512185"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T09:33", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000346_0000000346/records_99815_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1186%2F1756-0500-7-783"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/1756-0500-7-783'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/1756-0500-7-783'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/1756-0500-7-783'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/1756-0500-7-783'


 

This table displays all metadata directly associated to this object as RDF triples.

219 TRIPLES      21 PREDICATES      55 URIs      39 LITERALS      27 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/1756-0500-7-783 schema:about N0d3adc15a54b4db8808407a985d66276
2 N1f12a24bd31b44bfad1e6627ef5e5567
3 N3198af72e5b842c593079c5297309bb1
4 N3e7ad080df4e4aa186dc26d4c6af33b1
5 N644d0e26077e495f85dfadc2f8c854e8
6 N67605d0c406640f386387ad537bc05f5
7 N6fc6279ca0bd4a94a414e9214e82d8c6
8 N719f1c08fbbb4c7b8ebd729af1a8b410
9 N750781b3f6384334a04fe2c746c3a8c1
10 N763ca89ad84b4a68b3ed291ed56b3c0b
11 N853f1f5c908548ec84eec5f24657892a
12 N88304e7a471840dc9fa780621f628856
13 Nba0b4826f943427f9fc2a67400494eac
14 Nbe9665544ef34784b1ccff9be3933647
15 Nc30de10583be4077b7bcf4a8a69bad33
16 Ncc9d17b25ac94fcf8af5666306d79497
17 Ndf62e5a8ead74d25aeaa319ef6e6ade5
18 Nfc0ea7655f8a442f8b2439a5338b5497
19 anzsrc-for:06
20 anzsrc-for:0604
21 schema:author Na04b6f09767e4738a91855f03e7c6092
22 schema:citation sg:pub.10.1007/pl00009639
23 sg:pub.10.1038/ncb0602-e144
24 https://doi.org/10.1016/j.rdc.2012.03.009
25 https://doi.org/10.1016/s0168-9525(98)01658-8
26 https://doi.org/10.1073/pnas.0402490101
27 https://doi.org/10.1086/302156
28 https://doi.org/10.1542/peds.2007-1894
29 https://doi.org/10.1677/jme.0.0250141
30 schema:datePublished 2014-12
31 schema:datePublishedReg 2014-12-01
32 schema:description BACKGROUND: Rickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant rickets and 25 hydroxylase deficiency rickets. Vitamin D dependent rickets type 1 is inherited in an autosomal recessive pattern, and is caused by mutations in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. We report here a new mutation in CYP27B1, which lead to Vitamin D dependent rickets type 1. CASE PRESENTATION: We report on a 13-month-old Arabic Saudi girl with Vitamin D dependent rickets type 1 presented with multiple fractures and classic features of rickets. A whole exome sequencing identified a novel pathogenic missense mutation (CYP27B1:Homozygous c.1510C > T(p.Q504X)) which results in a protein truncating alteration. Both parents are heterozygous carriers of the mutation. Based on data search in Human Gene Mutation Database, 63 CYP27B1 alterations were reported: only 28.6% are protein truncating (5 nonsense, 13 frameshift insertions/deletions, 0 gross deletions), while 61.9% are non-truncating (38 missense, 1 small in-frame insertions/deletion), and 9.5% are possible protein-truncating (5 splice, 1 regulatory). CONCLUSION: The deleterious effect of this alteration, which was the only mutation detected in the CYP27B1 common gene of Vitamin D dependent rickets type 1 in the proband, and its autosomal recessive inheritance fashion, both support a pathogenic nature of this mutation as the cause of Vitamin D dependent rickets type 1.
33 schema:genre research_article
34 schema:inLanguage en
35 schema:isAccessibleForFree true
36 schema:isPartOf N51ffd5cded474b878b038b6fe27febdb
37 N90cb81774171455ba2388c00e2a07c4a
38 sg:journal.1039457
39 schema:name A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report
40 schema:pagination 783
41 schema:productId N31188169311a4e918a37a6c717764e9d
42 N32be7a472eb94e71b39bdf9207113b68
43 N4af4c6da3a1e4c67bce116f16c5cad11
44 N92a2f1816f0d45f1a0d4ce4a5807cbf1
45 Nfddcba7af4444b409084d0ca323ac19c
46 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000512185
47 https://doi.org/10.1186/1756-0500-7-783
48 schema:sdDatePublished 2019-04-11T09:33
49 schema:sdLicense https://scigraph.springernature.com/explorer/license/
50 schema:sdPublisher N14ff3018cc4c4447bfc3f0a7ec919b02
51 schema:url https://link.springer.com/10.1186%2F1756-0500-7-783
52 sgo:license sg:explorer/license/
53 sgo:sdDataset articles
54 rdf:type schema:ScholarlyArticle
55 N0461c421eacf45379f6cb2c7beed2999 schema:affiliation https://www.grid.ac/institutes/grid.56302.32
56 schema:familyName Al Boukai
57 schema:givenName Ahmed Amer
58 rdf:type schema:Person
59 N0d3adc15a54b4db8808407a985d66276 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
60 schema:name Familial Hypophosphatemic Rickets
61 rdf:type schema:DefinedTerm
62 N0d5fc133c2364d4e8c6e1148e8bd9c6a schema:affiliation https://www.grid.ac/institutes/grid.56302.32
63 schema:familyName Al Zahrani
64 schema:givenName Ali
65 rdf:type schema:Person
66 N14ff3018cc4c4447bfc3f0a7ec919b02 schema:name Springer Nature - SN SciGraph project
67 rdf:type schema:Organization
68 N1f12a24bd31b44bfad1e6627ef5e5567 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
69 schema:name Infant
70 rdf:type schema:DefinedTerm
71 N31188169311a4e918a37a6c717764e9d schema:name pubmed_id
72 schema:value 25371233
73 rdf:type schema:PropertyValue
74 N3198af72e5b842c593079c5297309bb1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
75 schema:name Humans
76 rdf:type schema:DefinedTerm
77 N32be7a472eb94e71b39bdf9207113b68 schema:name readcube_id
78 schema:value 027019bca4e4b5b675581c8bfe1a1d6d61344c9f7d84ff6791797dc0b448bf2b
79 rdf:type schema:PropertyValue
80 N33289ac404a4450eb70c3c83165721a3 schema:affiliation https://www.grid.ac/institutes/grid.459455.c
81 schema:familyName Al haboob
82 schema:givenName AliAbdu N
83 rdf:type schema:Person
84 N3e7ad080df4e4aa186dc26d4c6af33b1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
85 schema:name Phenotype
86 rdf:type schema:DefinedTerm
87 N4af4c6da3a1e4c67bce116f16c5cad11 schema:name dimensions_id
88 schema:value pub.1000512185
89 rdf:type schema:PropertyValue
90 N5070db30f93c4156ad90b80e3a663581 rdf:first N0461c421eacf45379f6cb2c7beed2999
91 rdf:rest N738d228a2e89466faef108f02ad58ac2
92 N51ffd5cded474b878b038b6fe27febdb schema:issueNumber 1
93 rdf:type schema:PublicationIssue
94 N52345087309146ad94e4dec5d5f4d4ba rdf:first sg:person.016316665564.63
95 rdf:rest Nb20b3f3b72cc4ba6b43bc2e8ddf13bcb
96 N644d0e26077e495f85dfadc2f8c854e8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
97 schema:name Pedigree
98 rdf:type schema:DefinedTerm
99 N67605d0c406640f386387ad537bc05f5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Dietary Supplements
101 rdf:type schema:DefinedTerm
102 N6fc6279ca0bd4a94a414e9214e82d8c6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name Female
104 rdf:type schema:DefinedTerm
105 N719f1c08fbbb4c7b8ebd729af1a8b410 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Heredity
107 rdf:type schema:DefinedTerm
108 N738d228a2e89466faef108f02ad58ac2 rdf:first N0d5fc133c2364d4e8c6e1148e8bd9c6a
109 rdf:rest Nafc880789e1b46a5a5688eac26d54cb1
110 N750781b3f6384334a04fe2c746c3a8c1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Arabs
112 rdf:type schema:DefinedTerm
113 N763ca89ad84b4a68b3ed291ed56b3c0b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name 25-Hydroxyvitamin D3 1-alpha-Hydroxylase
115 rdf:type schema:DefinedTerm
116 N84f72ab2e1c84f8a9ac65d2fbfa21275 rdf:first N33289ac404a4450eb70c3c83165721a3
117 rdf:rest N5070db30f93c4156ad90b80e3a663581
118 N853f1f5c908548ec84eec5f24657892a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
119 schema:name Genetic Predisposition to Disease
120 rdf:type schema:DefinedTerm
121 N88304e7a471840dc9fa780621f628856 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name DNA Mutational Analysis
123 rdf:type schema:DefinedTerm
124 N90cb81774171455ba2388c00e2a07c4a schema:volumeNumber 7
125 rdf:type schema:PublicationVolume
126 N92a2f1816f0d45f1a0d4ce4a5807cbf1 schema:name doi
127 schema:value 10.1186/1756-0500-7-783
128 rdf:type schema:PropertyValue
129 Na04b6f09767e4738a91855f03e7c6092 rdf:first sg:person.0763630400.31
130 rdf:rest Nd5655d1ca4ab4ba9b3ed648a2d5ad54d
131 Nafc880789e1b46a5a5688eac26d54cb1 rdf:first sg:person.01207726377.43
132 rdf:rest rdf:nil
133 Nb20b3f3b72cc4ba6b43bc2e8ddf13bcb rdf:first sg:person.012107467315.50
134 rdf:rest N84f72ab2e1c84f8a9ac65d2fbfa21275
135 Nba0b4826f943427f9fc2a67400494eac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
136 schema:name Mutation, Missense
137 rdf:type schema:DefinedTerm
138 Nbe9665544ef34784b1ccff9be3933647 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Databases, Genetic
140 rdf:type schema:DefinedTerm
141 Nc30de10583be4077b7bcf4a8a69bad33 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
142 schema:name Saudi Arabia
143 rdf:type schema:DefinedTerm
144 Ncc9d17b25ac94fcf8af5666306d79497 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
145 schema:name Homozygote
146 rdf:type schema:DefinedTerm
147 Nd5655d1ca4ab4ba9b3ed648a2d5ad54d rdf:first sg:person.010145572305.52
148 rdf:rest N52345087309146ad94e4dec5d5f4d4ba
149 Ndf62e5a8ead74d25aeaa319ef6e6ade5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
150 schema:name Calcium
151 rdf:type schema:DefinedTerm
152 Nfc0ea7655f8a442f8b2439a5338b5497 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
153 schema:name Vitamin D
154 rdf:type schema:DefinedTerm
155 Nfddcba7af4444b409084d0ca323ac19c schema:name nlm_unique_id
156 schema:value 101462768
157 rdf:type schema:PropertyValue
158 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
159 schema:name Biological Sciences
160 rdf:type schema:DefinedTerm
161 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
162 schema:name Genetics
163 rdf:type schema:DefinedTerm
164 sg:journal.1039457 schema:issn 1756-0500
165 schema:name BMC Research Notes
166 rdf:type schema:Periodical
167 sg:person.010145572305.52 schema:affiliation https://www.grid.ac/institutes/grid.56302.32
168 schema:familyName Al Gadi
169 schema:givenName Iman
170 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010145572305.52
171 rdf:type schema:Person
172 sg:person.01207726377.43 schema:affiliation https://www.grid.ac/institutes/grid.56302.32
173 schema:familyName Habib
174 schema:givenName Hanan Ahmed
175 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207726377.43
176 rdf:type schema:Person
177 sg:person.012107467315.50 schema:affiliation https://www.grid.ac/institutes/grid.459455.c
178 schema:familyName Al Nemri
179 schema:givenName Abdulrahman MH
180 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012107467315.50
181 rdf:type schema:Person
182 sg:person.016316665564.63 schema:affiliation https://www.grid.ac/institutes/grid.56302.32
183 schema:familyName Al-Jurayyan
184 schema:givenName Nasir AM
185 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016316665564.63
186 rdf:type schema:Person
187 sg:person.0763630400.31 schema:affiliation https://www.grid.ac/institutes/grid.56302.32
188 schema:familyName Babiker
189 schema:givenName Amir MI
190 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0763630400.31
191 rdf:type schema:Person
192 sg:pub.10.1007/pl00009639 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027354203
193 https://doi.org/10.1007/pl00009639
194 rdf:type schema:CreativeWork
195 sg:pub.10.1038/ncb0602-e144 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026304646
196 https://doi.org/10.1038/ncb0602-e144
197 rdf:type schema:CreativeWork
198 https://doi.org/10.1016/j.rdc.2012.03.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047931759
199 rdf:type schema:CreativeWork
200 https://doi.org/10.1016/s0168-9525(98)01658-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051140752
201 rdf:type schema:CreativeWork
202 https://doi.org/10.1073/pnas.0402490101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026792044
203 rdf:type schema:CreativeWork
204 https://doi.org/10.1086/302156 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609741
205 rdf:type schema:CreativeWork
206 https://doi.org/10.1542/peds.2007-1894 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051273077
207 rdf:type schema:CreativeWork
208 https://doi.org/10.1677/jme.0.0250141 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046680922
209 rdf:type schema:CreativeWork
210 https://www.grid.ac/institutes/grid.459455.c schema:alternateName King Khalid University Hospital
211 schema:name Pediatric Department, College of Medicine and King Khalid University Hospital, Riyadh, Saudi Arabia
212 rdf:type schema:Organization
213 https://www.grid.ac/institutes/grid.56302.32 schema:alternateName King Saud University
214 schema:name Pathology Department, King Khalid University Hospital and King Saud University, Riyadh, Saudi Arabia
215 Pediatric Department, College of Medicine and King Khalid University Hospital, Riyadh, Saudi Arabia
216 Pediatric Department, College of Medicine, King Khalid University Hospital and King Saud University, PO Box 2925, 11461, Riyadh, Saudi Arabia
217 Pediatric Endocrine Division, King Khalid University Hospital and King Saud University, Riyadh, Saudi Arabia
218 Radiology and Medical Imaging Department, King Khalid University Hospital and King Saud University, Riyadh, Saudi Arabia
219 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...