Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I) View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1998-02

AUTHORS

T. Onay, O. Topaloglu, J. Zielenski, N. Gokgoz, H. Kayserili, Y. Camcioglu, H. Cokugras, N. Akcakaya, M. Apak, L.-C. Tsui, B. Kirdar

ABSTRACT

In order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population, a complete coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene including exon-intron boundaries, on 122 unrelated CF chromosomes from 73 Turkish CF families was analysed by denaturing gradient gel electrophoresis and multiplex heteroduplex analysis on MDE gel matrix. In addition to 15 previously reported mutations and 12 polymorphisms, three novel mutations, namely 3172delAC, P1013L and M1028I, were detected. DeltaF508 was found to be present on 18.8% of CF chromosomes. The second most common mutation was 1677delTA, with a frequency of 7.3%, followed by G542X and 2183AA-->G mutations, with frequencies of 4.9%. These four most common mutations in Turkish CF population account for approximately 36% of mutations. This study could only detect 52.5% of disease-causing mutations in this population; 47.5% of CF alleles remain to be identified, reflecting the high molecular heterogeneity of the Turkish population. More... »

PAGES

224-230

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004390050683

DOI

http://dx.doi.org/10.1007/s004390050683

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1046866821

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9521595


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": "Adenine", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Amino Acid Substitution", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cystic Fibrosis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cystic Fibrosis Transmembrane Conductance Regulator", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cytosine", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Frameshift Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Isoleucine", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Leucine", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Methionine", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Genetic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Proline", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Deletion", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Turkey", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Bo\u011fazi\u00e7i University", 
          "id": "https://www.grid.ac/institutes/grid.11220.30", 
          "name": [
            "Bogazici University,  Department of Molecular Biology and Genetics, 80815 Bebek,  Istanbul, Turkey, TR"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Onay", 
        "givenName": "T.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Bo\u011fazi\u00e7i University", 
          "id": "https://www.grid.ac/institutes/grid.11220.30", 
          "name": [
            "Bogazici University,  Department of Molecular Biology and Genetics, 80815 Bebek,  Istanbul, Turkey, TR"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Topaloglu", 
        "givenName": "O.", 
        "id": "sg:person.0645113561.86", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0645113561.86"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospital for Sick Children", 
          "id": "https://www.grid.ac/institutes/grid.42327.30", 
          "name": [
            "Department of Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada, CA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zielenski", 
        "givenName": "J.", 
        "id": "sg:person.0770547130.88", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0770547130.88"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Bo\u011fazi\u00e7i University", 
          "id": "https://www.grid.ac/institutes/grid.11220.30", 
          "name": [
            "Bogazici University,  Department of Molecular Biology and Genetics, 80815 Bebek,  Istanbul, Turkey, TR"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gokgoz", 
        "givenName": "N.", 
        "id": "sg:person.01154147155.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154147155.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Istanbul University", 
          "id": "https://www.grid.ac/institutes/grid.9601.e", 
          "name": [
            "Istanbul University, Division of Medical Genetics,  Institute of Child Health, Istanbul, Turkey, TR"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kayserili", 
        "givenName": "H.", 
        "id": "sg:person.01026716422.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026716422.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Istanbul University", 
          "id": "https://www.grid.ac/institutes/grid.9601.e", 
          "name": [
            "Istanbul University, Cerrahpasa Medical School,  Department of Pediatrics"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Camcioglu", 
        "givenName": "Y.", 
        "id": "sg:person.01277073216.08", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277073216.08"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Istanbul University", 
          "id": "https://www.grid.ac/institutes/grid.9601.e", 
          "name": [
            "Istanbul University, Cerrahpasa Medical School,  Department of Pediatrics"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cokugras", 
        "givenName": "H.", 
        "id": "sg:person.0652143121.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0652143121.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Istanbul University", 
          "id": "https://www.grid.ac/institutes/grid.9601.e", 
          "name": [
            "Istanbul University, Cerrahpasa Medical School,  Department of Pediatrics"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Akcakaya", 
        "givenName": "N.", 
        "id": "sg:person.0653777325.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653777325.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Istanbul University", 
          "id": "https://www.grid.ac/institutes/grid.9601.e", 
          "name": [
            "Istanbul University, Division of Medical Genetics,  Institute of Child Health, Istanbul, Turkey, TR"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Apak", 
        "givenName": "M.", 
        "id": "sg:person.01167622675.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167622675.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospital for Sick Children", 
          "id": "https://www.grid.ac/institutes/grid.42327.30", 
          "name": [
            "Department of Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada, CA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tsui", 
        "givenName": "L.-C.", 
        "id": "sg:person.01243057047.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243057047.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Bo\u011fazi\u00e7i University", 
          "id": "https://www.grid.ac/institutes/grid.11220.30", 
          "name": [
            "Bogazici University, Department of Chemical Engineering, 80815 Bebek, Istanbul, Turkey Tel.: +90-212-263 15 40; ext. 2126, Fax: +90-212-287-24 67,  e-mail: kirdar@boun.edu.tr, TR"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kirdar", 
        "givenName": "B.", 
        "id": "sg:person.0641461655.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641461655.16"
        ], 
        "type": "Person"
      }
    ], 
    "datePublished": "1998-02", 
    "datePublishedReg": "1998-02-01", 
    "description": "In order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population, a complete coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene including exon-intron boundaries, on 122 unrelated CF chromosomes from 73 Turkish CF families was analysed by denaturing gradient gel electrophoresis and multiplex heteroduplex analysis on MDE gel matrix. In addition to 15 previously reported mutations and 12 polymorphisms, three novel mutations, namely 3172delAC, P1013L and M1028I, were detected. DeltaF508 was found to be present on 18.8% of CF chromosomes. The second most common mutation was 1677delTA, with a frequency of 7.3%, followed by G542X and 2183AA-->G mutations, with frequencies of 4.9%. These four most common mutations in Turkish CF population account for approximately 36% of mutations. This study could only detect 52.5% of disease-causing mutations in this population; 47.5% of CF alleles remain to be identified, reflecting the high molecular heterogeneity of the Turkish population.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s004390050683", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1085982", 
        "issn": [
          "0340-6717", 
          "1432-1203"
        ], 
        "name": "Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "2", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "102"
      }
    ], 
    "name": "Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)", 
    "pagination": "224-230", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "df41bb804fd8a3a6033a9eb47cb2696da1a7f9d4f75e4cb617db1fbcb75fb312"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "9521595"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7613873"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s004390050683"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1046866821"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s004390050683", 
      "https://app.dimensions.ai/details/publication/pub.1046866821"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T10:35", 
    "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/v90/0000000349_0000000349/records_113667_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1007%2Fs004390050683"
  }
]
 

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/s004390050683'

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/s004390050683'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s004390050683'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s004390050683'


 

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

206 TRIPLES      20 PREDICATES      44 URIs      36 LITERALS      24 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s004390050683 schema:about N119533107d38473ebb3d13e6e5a81638
2 N2101905cd1a34ae1bd6e8cf5d2e17524
3 N28a34e109d834175b0a630b1426ddb04
4 N2a57da2a52c9425d98f57a165782379a
5 N384b3c00b192448f9a5d3c5d647876ed
6 N3e33e602e0ba451a9fe056fdd6c69754
7 N4b48b5466c3f4aacbe5612f93b7cc671
8 N74ddcaf5ad294c6eaeaefa9f5b87fb55
9 N8442edbbb5ce4423a2c9cad67f59d026
10 N854bcce794e7446a8a8929bdf713f29e
11 N9c1280d7d8534eae9c261847083dbee0
12 Naf4f7259a9a349fdae6d23112c5a0c12
13 Nc52e38377fcf47bf96e0c12144124d76
14 Nec3f197b73e74cf392d9dd4429903065
15 Nf32bd274cdde4bf0ac7e33bd26401693
16 anzsrc-for:06
17 anzsrc-for:0604
18 schema:author N2fb9bd874cb648c1ad9a806eb7a18bb0
19 schema:datePublished 1998-02
20 schema:datePublishedReg 1998-02-01
21 schema:description In order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population, a complete coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene including exon-intron boundaries, on 122 unrelated CF chromosomes from 73 Turkish CF families was analysed by denaturing gradient gel electrophoresis and multiplex heteroduplex analysis on MDE gel matrix. In addition to 15 previously reported mutations and 12 polymorphisms, three novel mutations, namely 3172delAC, P1013L and M1028I, were detected. DeltaF508 was found to be present on 18.8% of CF chromosomes. The second most common mutation was 1677delTA, with a frequency of 7.3%, followed by G542X and 2183AA-->G mutations, with frequencies of 4.9%. These four most common mutations in Turkish CF population account for approximately 36% of mutations. This study could only detect 52.5% of disease-causing mutations in this population; 47.5% of CF alleles remain to be identified, reflecting the high molecular heterogeneity of the Turkish population.
22 schema:genre research_article
23 schema:inLanguage en
24 schema:isAccessibleForFree false
25 schema:isPartOf N02a98e311f964756843fe05158939b83
26 N4fb285d44da642bca58b9bde4880b8ae
27 sg:journal.1085982
28 schema:name Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)
29 schema:pagination 224-230
30 schema:productId N57b92d1dc1b240c48c6d857bb1b6167f
31 N66888c250c124e0db39784579fb8b04d
32 N830653bcdbf549acb4f84ccadf3eb734
33 Nb277315fbcf841358a2497d768694fcf
34 Nc08178d232694c59b608f3277bc6b472
35 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046866821
36 https://doi.org/10.1007/s004390050683
37 schema:sdDatePublished 2019-04-11T10:35
38 schema:sdLicense https://scigraph.springernature.com/explorer/license/
39 schema:sdPublisher Nae2f32ba343d430284cbce8cab3c3781
40 schema:url https://link.springer.com/10.1007%2Fs004390050683
41 sgo:license sg:explorer/license/
42 sgo:sdDataset articles
43 rdf:type schema:ScholarlyArticle
44 N02a98e311f964756843fe05158939b83 schema:volumeNumber 102
45 rdf:type schema:PublicationVolume
46 N119533107d38473ebb3d13e6e5a81638 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
47 schema:name Cystic Fibrosis
48 rdf:type schema:DefinedTerm
49 N1266d9d9155c4441832f624dd6c114d7 rdf:first sg:person.0645113561.86
50 rdf:rest N9c808f1452f94c5e87e9b96da8880265
51 N2101905cd1a34ae1bd6e8cf5d2e17524 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
52 schema:name Cystic Fibrosis Transmembrane Conductance Regulator
53 rdf:type schema:DefinedTerm
54 N25e72cde55684b6294854cf103b9d832 rdf:first sg:person.01243057047.05
55 rdf:rest N3d27c6727ce8463f9a7ca01ca8b9bf15
56 N28a34e109d834175b0a630b1426ddb04 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
57 schema:name Sequence Deletion
58 rdf:type schema:DefinedTerm
59 N2a57da2a52c9425d98f57a165782379a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
60 schema:name Adenine
61 rdf:type schema:DefinedTerm
62 N2fb9bd874cb648c1ad9a806eb7a18bb0 rdf:first N5ff8b15a2a944b6ca65cc727d8ae87bc
63 rdf:rest N1266d9d9155c4441832f624dd6c114d7
64 N384b3c00b192448f9a5d3c5d647876ed schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
65 schema:name Isoleucine
66 rdf:type schema:DefinedTerm
67 N3d27c6727ce8463f9a7ca01ca8b9bf15 rdf:first sg:person.0641461655.16
68 rdf:rest rdf:nil
69 N3e33e602e0ba451a9fe056fdd6c69754 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
70 schema:name Polymorphism, Genetic
71 rdf:type schema:DefinedTerm
72 N3f292dbb4d6149e4a3ac695c1ca9dcbc rdf:first sg:person.01154147155.10
73 rdf:rest Nedb6fc5cce68488696f9135a90b8640e
74 N4b48b5466c3f4aacbe5612f93b7cc671 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
75 schema:name Leucine
76 rdf:type schema:DefinedTerm
77 N4fb285d44da642bca58b9bde4880b8ae schema:issueNumber 2
78 rdf:type schema:PublicationIssue
79 N5224a881672849bf8dc7b644804ad1dc rdf:first sg:person.0653777325.58
80 rdf:rest Naf5a8f737678451dacfd9d48ff82d51a
81 N57b92d1dc1b240c48c6d857bb1b6167f schema:name nlm_unique_id
82 schema:value 7613873
83 rdf:type schema:PropertyValue
84 N5ff8b15a2a944b6ca65cc727d8ae87bc schema:affiliation https://www.grid.ac/institutes/grid.11220.30
85 schema:familyName Onay
86 schema:givenName T.
87 rdf:type schema:Person
88 N66888c250c124e0db39784579fb8b04d schema:name dimensions_id
89 schema:value pub.1046866821
90 rdf:type schema:PropertyValue
91 N74ddcaf5ad294c6eaeaefa9f5b87fb55 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
92 schema:name Methionine
93 rdf:type schema:DefinedTerm
94 N830653bcdbf549acb4f84ccadf3eb734 schema:name readcube_id
95 schema:value df41bb804fd8a3a6033a9eb47cb2696da1a7f9d4f75e4cb617db1fbcb75fb312
96 rdf:type schema:PropertyValue
97 N8442edbbb5ce4423a2c9cad67f59d026 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
98 schema:name Cytosine
99 rdf:type schema:DefinedTerm
100 N854bcce794e7446a8a8929bdf713f29e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
101 schema:name Frameshift Mutation
102 rdf:type schema:DefinedTerm
103 N9c1280d7d8534eae9c261847083dbee0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
104 schema:name Proline
105 rdf:type schema:DefinedTerm
106 N9c808f1452f94c5e87e9b96da8880265 rdf:first sg:person.0770547130.88
107 rdf:rest N3f292dbb4d6149e4a3ac695c1ca9dcbc
108 Na46b59429e074bb49ae5ce00b3c70d0b rdf:first sg:person.01277073216.08
109 rdf:rest Nc81e3e4412d44b198b8344da76086f56
110 Nae2f32ba343d430284cbce8cab3c3781 schema:name Springer Nature - SN SciGraph project
111 rdf:type schema:Organization
112 Naf4f7259a9a349fdae6d23112c5a0c12 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
113 schema:name Mutation
114 rdf:type schema:DefinedTerm
115 Naf5a8f737678451dacfd9d48ff82d51a rdf:first sg:person.01167622675.15
116 rdf:rest N25e72cde55684b6294854cf103b9d832
117 Nb277315fbcf841358a2497d768694fcf schema:name doi
118 schema:value 10.1007/s004390050683
119 rdf:type schema:PropertyValue
120 Nc08178d232694c59b608f3277bc6b472 schema:name pubmed_id
121 schema:value 9521595
122 rdf:type schema:PropertyValue
123 Nc52e38377fcf47bf96e0c12144124d76 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
124 schema:name Amino Acid Substitution
125 rdf:type schema:DefinedTerm
126 Nc81e3e4412d44b198b8344da76086f56 rdf:first sg:person.0652143121.31
127 rdf:rest N5224a881672849bf8dc7b644804ad1dc
128 Nec3f197b73e74cf392d9dd4429903065 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
129 schema:name Humans
130 rdf:type schema:DefinedTerm
131 Nedb6fc5cce68488696f9135a90b8640e rdf:first sg:person.01026716422.64
132 rdf:rest Na46b59429e074bb49ae5ce00b3c70d0b
133 Nf32bd274cdde4bf0ac7e33bd26401693 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
134 schema:name Turkey
135 rdf:type schema:DefinedTerm
136 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
137 schema:name Biological Sciences
138 rdf:type schema:DefinedTerm
139 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
140 schema:name Genetics
141 rdf:type schema:DefinedTerm
142 sg:journal.1085982 schema:issn 0340-6717
143 1432-1203
144 schema:name Human Genetics
145 rdf:type schema:Periodical
146 sg:person.01026716422.64 schema:affiliation https://www.grid.ac/institutes/grid.9601.e
147 schema:familyName Kayserili
148 schema:givenName H.
149 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026716422.64
150 rdf:type schema:Person
151 sg:person.01154147155.10 schema:affiliation https://www.grid.ac/institutes/grid.11220.30
152 schema:familyName Gokgoz
153 schema:givenName N.
154 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154147155.10
155 rdf:type schema:Person
156 sg:person.01167622675.15 schema:affiliation https://www.grid.ac/institutes/grid.9601.e
157 schema:familyName Apak
158 schema:givenName M.
159 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167622675.15
160 rdf:type schema:Person
161 sg:person.01243057047.05 schema:affiliation https://www.grid.ac/institutes/grid.42327.30
162 schema:familyName Tsui
163 schema:givenName L.-C.
164 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01243057047.05
165 rdf:type schema:Person
166 sg:person.01277073216.08 schema:affiliation https://www.grid.ac/institutes/grid.9601.e
167 schema:familyName Camcioglu
168 schema:givenName Y.
169 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277073216.08
170 rdf:type schema:Person
171 sg:person.0641461655.16 schema:affiliation https://www.grid.ac/institutes/grid.11220.30
172 schema:familyName Kirdar
173 schema:givenName B.
174 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641461655.16
175 rdf:type schema:Person
176 sg:person.0645113561.86 schema:affiliation https://www.grid.ac/institutes/grid.11220.30
177 schema:familyName Topaloglu
178 schema:givenName O.
179 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0645113561.86
180 rdf:type schema:Person
181 sg:person.0652143121.31 schema:affiliation https://www.grid.ac/institutes/grid.9601.e
182 schema:familyName Cokugras
183 schema:givenName H.
184 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0652143121.31
185 rdf:type schema:Person
186 sg:person.0653777325.58 schema:affiliation https://www.grid.ac/institutes/grid.9601.e
187 schema:familyName Akcakaya
188 schema:givenName N.
189 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653777325.58
190 rdf:type schema:Person
191 sg:person.0770547130.88 schema:affiliation https://www.grid.ac/institutes/grid.42327.30
192 schema:familyName Zielenski
193 schema:givenName J.
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0770547130.88
195 rdf:type schema:Person
196 https://www.grid.ac/institutes/grid.11220.30 schema:alternateName Boğaziçi University
197 schema:name Bogazici University, Department of Molecular Biology and Genetics, 80815 Bebek, Istanbul, Turkey, TR
198 Bogazici University, Department of Chemical Engineering, 80815 Bebek, Istanbul, Turkey Tel.: +90-212-263 15 40; ext. 2126, Fax: +90-212-287-24 67, e-mail: kirdar@boun.edu.tr, TR
199 rdf:type schema:Organization
200 https://www.grid.ac/institutes/grid.42327.30 schema:alternateName Hospital for Sick Children
201 schema:name Department of Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada, CA
202 rdf:type schema:Organization
203 https://www.grid.ac/institutes/grid.9601.e schema:alternateName Istanbul University
204 schema:name Istanbul University, Cerrahpasa Medical School, Department of Pediatrics
205 Istanbul University, Division of Medical Genetics, Institute of Child Health, Istanbul, Turkey, TR
206 rdf:type schema:Organization
 




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


...