Multiplex-PCR Assay for the Deletions Causing Hereditary Persistence of Fetal Hemoglobin View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-09

AUTHORS

Urvashi Bhardwaj, Edward R. B. McCabe

ABSTRACT

INTRODUCTION: Hereditary persistence of fetal hemoglobin (HPFH) is a benign condition caused by the failure of normal switching from the fetal to the adult beta-globin gene, resulting in continuous production of fetal hemoglobin beyond the perinatal period. To date, eight deletions of variable size and position have been reported for HPFH. Southern hybridization and PCR are the most common methods used to detect each deletion. AIM: Our aim was to develop a multiplex-PCR assay to detect these deletions in a single tube in order to facilitate rapid and accurate molecular diagnosis. METHODS AND RESULTS: This report is the first application of multiplex-gap-PCR to detect all HPFH deletions simultaneously to expedite diagnosis. The deletion breakpoints were precisely identified for each deletion and primers were designed in the unique regions across the breakpoints of HPFH-1 (Black), HPFH-2 (Ghanaian), HPFH-3 (Asian Indian), HPFH-4 (Italian), HPFH-5 (Italian), HPFH-6 (Vietnamese), HPFH-7 (Kenyan), and SEA-HPFH (Southeast Asian). As many as 16 primers were used in a single amplification reaction by adjusting the relative primer concentrations. The multiplex-PCR approach was standardized on known positive control samples. We identified unique deletion-specific products for each deletion. The results were confirmed by sequence analysis. CONCLUSIONS: We conclude that our multiplex-gap PCR strategy provides the most rapid and accurate diagnosis for the deletions in the beta-globin gene cluster causing HPFH. More... »

PAGES

151-156

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf03260083

DOI

http://dx.doi.org/10.1007/bf03260083

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1025769714

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16271016


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": "Fetal Hemoglobin", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genome, Human", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hemoglobinopathies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Multigene Family", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymerase Chain Reaction", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Deletion", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Mattel Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416593.c", 
          "name": [
            "Department of Pediatrics, David Geffen School of Medicine at University of California, Los Angeles (UCLA), 10833 Le Conte Avenue, 90095-1752, Los Angeles, 22-412 MDCC, California, USA", 
            "Mattel Children\u2019s Hospital at UCLA, Los Angeles, California, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bhardwaj", 
        "givenName": "Urvashi", 
        "id": "sg:person.01370664720.26", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01370664720.26"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Mattel Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416593.c", 
          "name": [
            "Department of Pediatrics, David Geffen School of Medicine at University of California, Los Angeles (UCLA), 10833 Le Conte Avenue, 90095-1752, Los Angeles, 22-412 MDCC, California, USA", 
            "Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles (UCLA), Los Angeles, California, USA", 
            "Molecular Biology Institute, University of California, Los Angeles (UCLA), Los Angeles, California, USA", 
            "Mattel Children\u2019s Hospital at UCLA, Los Angeles, California, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "McCabe", 
        "givenName": "Edward R. B.", 
        "id": "sg:person.0663304144.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663304144.07"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/s1097-2765(00)80432-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003084174"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00499284", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008666714", 
          "https://doi.org/10.1007/bf00499284"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00499284", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008666714", 
          "https://doi.org/10.1007/bf00499284"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2003-05-1681", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010200015"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.270.17.10256", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024071771"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00043426-200208000-00019", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025045864"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00043426-200208000-00019", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025045864"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1590/s0102-311x2002000500040", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028137927"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/1096-8652(200011)65:3<183::aid-ajh1>3.0.co;2-r", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030142581"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0888-7543(90)90561-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033196150"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.83.14.5194", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035131400"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/emboj/18.4.949", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037744688"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1749-6632.1998.tb10460.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039470141"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390050530", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046082035", 
          "https://doi.org/10.1007/s004390050530"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390050530", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046082035", 
          "https://doi.org/10.1007/s004390050530"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1365-2141.2003.04600.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047443397"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/8.7.1521", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048800896"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajh.2830410413", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050494064"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075289146", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077279950", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0889-8588(18)30422-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1077330984"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1078818002", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1078846331", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1078903582", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082392114", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082921920", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/9780470696705", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1109496174"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1109496174", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1109496174", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2005-09", 
    "datePublishedReg": "2005-09-01", 
    "description": "INTRODUCTION: Hereditary persistence of fetal hemoglobin (HPFH) is a benign condition caused by the failure of normal switching from the fetal to the adult beta-globin gene, resulting in continuous production of fetal hemoglobin beyond the perinatal period. To date, eight deletions of variable size and position have been reported for HPFH. Southern hybridization and PCR are the most common methods used to detect each deletion.\nAIM: Our aim was to develop a multiplex-PCR assay to detect these deletions in a single tube in order to facilitate rapid and accurate molecular diagnosis.\nMETHODS AND RESULTS: This report is the first application of multiplex-gap-PCR to detect all HPFH deletions simultaneously to expedite diagnosis. The deletion breakpoints were precisely identified for each deletion and primers were designed in the unique regions across the breakpoints of HPFH-1 (Black), HPFH-2 (Ghanaian), HPFH-3 (Asian Indian), HPFH-4 (Italian), HPFH-5 (Italian), HPFH-6 (Vietnamese), HPFH-7 (Kenyan), and SEA-HPFH (Southeast Asian). As many as 16 primers were used in a single amplification reaction by adjusting the relative primer concentrations. The multiplex-PCR approach was standardized on known positive control samples. We identified unique deletion-specific products for each deletion. The results were confirmed by sequence analysis.\nCONCLUSIONS: We conclude that our multiplex-gap PCR strategy provides the most rapid and accurate diagnosis for the deletions in the beta-globin gene cluster causing HPFH.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/bf03260083", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1116117", 
        "issn": [
          "1084-8592", 
          "1532-8619"
        ], 
        "name": "Molecular Diagnosis", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "9"
      }
    ], 
    "name": "Multiplex-PCR Assay for the Deletions Causing Hereditary Persistence of Fetal Hemoglobin", 
    "pagination": "151-156", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "7ac523efb688c4321f5457050cfac292d9cb644acccfe944b2de24125450dbfc"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "16271016"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9614965"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/bf03260083"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1025769714"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/bf03260083", 
      "https://app.dimensions.ai/details/publication/pub.1025769714"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T13:29", 
    "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/v90/0000000001_0000000264/records_8659_00000587.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007/BF03260083"
  }
]
 

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.10.1007/bf03260083'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/bf03260083'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/bf03260083'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/bf03260083'


 

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

176 TRIPLES      21 PREDICATES      61 URIs      28 LITERALS      16 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/bf03260083 schema:about N72c19937a11b4e1fa711016501b0a2bb
2 N92f9c7078f1f448198e7a1007ea8ed26
3 Nb43833ca745445a486e0d2aef9850ca2
4 Ne1cda181ce564c408fae300641c1570a
5 Ne51ca4138e29418487ab192aebe955a8
6 Nf665b8251fbb41d18bc59b60dc5bcb13
7 Nfa79868cf00346ca95a238a5e3d3c13f
8 anzsrc-for:06
9 anzsrc-for:0604
10 schema:author N730ca899502a4fa09bb41f5d48af4f74
11 schema:citation sg:pub.10.1007/bf00499284
12 sg:pub.10.1007/s004390050530
13 https://app.dimensions.ai/details/publication/pub.1075289146
14 https://app.dimensions.ai/details/publication/pub.1077279950
15 https://app.dimensions.ai/details/publication/pub.1078818002
16 https://app.dimensions.ai/details/publication/pub.1078846331
17 https://app.dimensions.ai/details/publication/pub.1078903582
18 https://app.dimensions.ai/details/publication/pub.1082392114
19 https://app.dimensions.ai/details/publication/pub.1082921920
20 https://app.dimensions.ai/details/publication/pub.1109496174
21 https://doi.org/10.1002/1096-8652(200011)65:3<183::aid-ajh1>3.0.co;2-r
22 https://doi.org/10.1002/9780470696705
23 https://doi.org/10.1002/ajh.2830410413
24 https://doi.org/10.1016/0888-7543(90)90561-8
25 https://doi.org/10.1016/s0889-8588(18)30422-2
26 https://doi.org/10.1016/s1097-2765(00)80432-3
27 https://doi.org/10.1046/j.1365-2141.2003.04600.x
28 https://doi.org/10.1073/pnas.83.14.5194
29 https://doi.org/10.1074/jbc.270.17.10256
30 https://doi.org/10.1093/emboj/18.4.949
31 https://doi.org/10.1093/nar/8.7.1521
32 https://doi.org/10.1097/00043426-200208000-00019
33 https://doi.org/10.1111/j.1749-6632.1998.tb10460.x
34 https://doi.org/10.1182/blood-2003-05-1681
35 https://doi.org/10.1590/s0102-311x2002000500040
36 schema:datePublished 2005-09
37 schema:datePublishedReg 2005-09-01
38 schema:description INTRODUCTION: Hereditary persistence of fetal hemoglobin (HPFH) is a benign condition caused by the failure of normal switching from the fetal to the adult beta-globin gene, resulting in continuous production of fetal hemoglobin beyond the perinatal period. To date, eight deletions of variable size and position have been reported for HPFH. Southern hybridization and PCR are the most common methods used to detect each deletion. AIM: Our aim was to develop a multiplex-PCR assay to detect these deletions in a single tube in order to facilitate rapid and accurate molecular diagnosis. METHODS AND RESULTS: This report is the first application of multiplex-gap-PCR to detect all HPFH deletions simultaneously to expedite diagnosis. The deletion breakpoints were precisely identified for each deletion and primers were designed in the unique regions across the breakpoints of HPFH-1 (Black), HPFH-2 (Ghanaian), HPFH-3 (Asian Indian), HPFH-4 (Italian), HPFH-5 (Italian), HPFH-6 (Vietnamese), HPFH-7 (Kenyan), and SEA-HPFH (Southeast Asian). As many as 16 primers were used in a single amplification reaction by adjusting the relative primer concentrations. The multiplex-PCR approach was standardized on known positive control samples. We identified unique deletion-specific products for each deletion. The results were confirmed by sequence analysis. CONCLUSIONS: We conclude that our multiplex-gap PCR strategy provides the most rapid and accurate diagnosis for the deletions in the beta-globin gene cluster causing HPFH.
39 schema:genre research_article
40 schema:inLanguage en
41 schema:isAccessibleForFree false
42 schema:isPartOf N971eb15cda574aeea651cbe0fd4e10f8
43 Nd2e7710f7f4e422dad20e4d1440f204e
44 sg:journal.1116117
45 schema:name Multiplex-PCR Assay for the Deletions Causing Hereditary Persistence of Fetal Hemoglobin
46 schema:pagination 151-156
47 schema:productId N096b86f45a1248af901f81990eb8972b
48 N4e3cb275e1d0485b84a05242fa99173f
49 N987e554380fb432bb88842675ac77c58
50 Na6fbec0544824822942e7bc8dd5c791f
51 Nad357f45226d4ff7a745af65728d39d7
52 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025769714
53 https://doi.org/10.1007/bf03260083
54 schema:sdDatePublished 2019-04-10T13:29
55 schema:sdLicense https://scigraph.springernature.com/explorer/license/
56 schema:sdPublisher N05a0900d8b5f4bfb9b500e2da7868d21
57 schema:url http://link.springer.com/10.1007/BF03260083
58 sgo:license sg:explorer/license/
59 sgo:sdDataset articles
60 rdf:type schema:ScholarlyArticle
61 N05a0900d8b5f4bfb9b500e2da7868d21 schema:name Springer Nature - SN SciGraph project
62 rdf:type schema:Organization
63 N096b86f45a1248af901f81990eb8972b schema:name pubmed_id
64 schema:value 16271016
65 rdf:type schema:PropertyValue
66 N4266d08dc4944b89b41dda06f91beb00 rdf:first sg:person.0663304144.07
67 rdf:rest rdf:nil
68 N4e3cb275e1d0485b84a05242fa99173f schema:name doi
69 schema:value 10.1007/bf03260083
70 rdf:type schema:PropertyValue
71 N72c19937a11b4e1fa711016501b0a2bb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
72 schema:name Sequence Deletion
73 rdf:type schema:DefinedTerm
74 N730ca899502a4fa09bb41f5d48af4f74 rdf:first sg:person.01370664720.26
75 rdf:rest N4266d08dc4944b89b41dda06f91beb00
76 N92f9c7078f1f448198e7a1007ea8ed26 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
77 schema:name Hemoglobinopathies
78 rdf:type schema:DefinedTerm
79 N971eb15cda574aeea651cbe0fd4e10f8 schema:issueNumber 3
80 rdf:type schema:PublicationIssue
81 N987e554380fb432bb88842675ac77c58 schema:name nlm_unique_id
82 schema:value 9614965
83 rdf:type schema:PropertyValue
84 Na6fbec0544824822942e7bc8dd5c791f schema:name dimensions_id
85 schema:value pub.1025769714
86 rdf:type schema:PropertyValue
87 Nad357f45226d4ff7a745af65728d39d7 schema:name readcube_id
88 schema:value 7ac523efb688c4321f5457050cfac292d9cb644acccfe944b2de24125450dbfc
89 rdf:type schema:PropertyValue
90 Nb43833ca745445a486e0d2aef9850ca2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Multigene Family
92 rdf:type schema:DefinedTerm
93 Nd2e7710f7f4e422dad20e4d1440f204e schema:volumeNumber 9
94 rdf:type schema:PublicationVolume
95 Ne1cda181ce564c408fae300641c1570a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
96 schema:name Polymerase Chain Reaction
97 rdf:type schema:DefinedTerm
98 Ne51ca4138e29418487ab192aebe955a8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Fetal Hemoglobin
100 rdf:type schema:DefinedTerm
101 Nf665b8251fbb41d18bc59b60dc5bcb13 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
102 schema:name Genome, Human
103 rdf:type schema:DefinedTerm
104 Nfa79868cf00346ca95a238a5e3d3c13f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
105 schema:name Humans
106 rdf:type schema:DefinedTerm
107 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
108 schema:name Biological Sciences
109 rdf:type schema:DefinedTerm
110 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
111 schema:name Genetics
112 rdf:type schema:DefinedTerm
113 sg:journal.1116117 schema:issn 1084-8592
114 1532-8619
115 schema:name Molecular Diagnosis
116 rdf:type schema:Periodical
117 sg:person.01370664720.26 schema:affiliation https://www.grid.ac/institutes/grid.416593.c
118 schema:familyName Bhardwaj
119 schema:givenName Urvashi
120 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01370664720.26
121 rdf:type schema:Person
122 sg:person.0663304144.07 schema:affiliation https://www.grid.ac/institutes/grid.416593.c
123 schema:familyName McCabe
124 schema:givenName Edward R. B.
125 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663304144.07
126 rdf:type schema:Person
127 sg:pub.10.1007/bf00499284 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008666714
128 https://doi.org/10.1007/bf00499284
129 rdf:type schema:CreativeWork
130 sg:pub.10.1007/s004390050530 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046082035
131 https://doi.org/10.1007/s004390050530
132 rdf:type schema:CreativeWork
133 https://app.dimensions.ai/details/publication/pub.1075289146 schema:CreativeWork
134 https://app.dimensions.ai/details/publication/pub.1077279950 schema:CreativeWork
135 https://app.dimensions.ai/details/publication/pub.1078818002 schema:CreativeWork
136 https://app.dimensions.ai/details/publication/pub.1078846331 schema:CreativeWork
137 https://app.dimensions.ai/details/publication/pub.1078903582 schema:CreativeWork
138 https://app.dimensions.ai/details/publication/pub.1082392114 schema:CreativeWork
139 https://app.dimensions.ai/details/publication/pub.1082921920 schema:CreativeWork
140 https://app.dimensions.ai/details/publication/pub.1109496174 schema:CreativeWork
141 https://doi.org/10.1002/1096-8652(200011)65:3<183::aid-ajh1>3.0.co;2-r schema:sameAs https://app.dimensions.ai/details/publication/pub.1030142581
142 rdf:type schema:CreativeWork
143 https://doi.org/10.1002/9780470696705 schema:sameAs https://app.dimensions.ai/details/publication/pub.1109496174
144 rdf:type schema:CreativeWork
145 https://doi.org/10.1002/ajh.2830410413 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050494064
146 rdf:type schema:CreativeWork
147 https://doi.org/10.1016/0888-7543(90)90561-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033196150
148 rdf:type schema:CreativeWork
149 https://doi.org/10.1016/s0889-8588(18)30422-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1077330984
150 rdf:type schema:CreativeWork
151 https://doi.org/10.1016/s1097-2765(00)80432-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003084174
152 rdf:type schema:CreativeWork
153 https://doi.org/10.1046/j.1365-2141.2003.04600.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1047443397
154 rdf:type schema:CreativeWork
155 https://doi.org/10.1073/pnas.83.14.5194 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035131400
156 rdf:type schema:CreativeWork
157 https://doi.org/10.1074/jbc.270.17.10256 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024071771
158 rdf:type schema:CreativeWork
159 https://doi.org/10.1093/emboj/18.4.949 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037744688
160 rdf:type schema:CreativeWork
161 https://doi.org/10.1093/nar/8.7.1521 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048800896
162 rdf:type schema:CreativeWork
163 https://doi.org/10.1097/00043426-200208000-00019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025045864
164 rdf:type schema:CreativeWork
165 https://doi.org/10.1111/j.1749-6632.1998.tb10460.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1039470141
166 rdf:type schema:CreativeWork
167 https://doi.org/10.1182/blood-2003-05-1681 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010200015
168 rdf:type schema:CreativeWork
169 https://doi.org/10.1590/s0102-311x2002000500040 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028137927
170 rdf:type schema:CreativeWork
171 https://www.grid.ac/institutes/grid.416593.c schema:alternateName Mattel Children's Hospital
172 schema:name Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles (UCLA), Los Angeles, California, USA
173 Department of Pediatrics, David Geffen School of Medicine at University of California, Los Angeles (UCLA), 10833 Le Conte Avenue, 90095-1752, Los Angeles, 22-412 MDCC, California, USA
174 Mattel Children’s Hospital at UCLA, Los Angeles, California, USA
175 Molecular Biology Institute, University of California, Los Angeles (UCLA), Los Angeles, California, USA
176 rdf:type schema:Organization
 




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


...