A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1985-10-01

AUTHORS

S. T. Reeders, M. H. Breuning, K. E. Davies, R. D. Nicholls, A. P. Jarman, D. R. Higgs, P. L. Pearson, D. J. Weatherall

ABSTRACT

Adult polycystic kidney disease (APCKD) is a common and often lethal multi-organ disease with an autosomal dominant pattern of inheritance; approximately 1 in 1,000 people carry the mutant gene1. The major pathological abnormality is the development and progressive enlargement of cysts in several organs including the liver, pancreas and spleen as well as the kidneys. The basic biochemical defect which leads to the formation of cysts remains unknown2. Cyst development, which is not retarded by any known therapy, leads to irreversible renal failure and death at a mean age of 51 unless dialysis or transplantation are used3. Patients with the disease account for 9% of chronic dialysis requirement4. The first symptoms tend to occur in the fourth decade, after most patients have reproduced3. Presymptomatic diagnosis depends on the ultrasonographic detection of cysts, but exclusion cannot be achieved by this means; 34% of at-risk patients in the second decade and 14% in the third will go on to develop cysts after negative diagnosis5. The low sensitivity of diagnostic techniques in this critical age-range imposes severe limitations on genetic counselling and the condition cannot be identified prenatally. Hence we have searched for a linkage marker for APCKD; we show here that the APCKD locus is closely linked to the α-globin locus on the short arm of chromosome 16 (ẑ = 25.85, θ̂=0.05). More... »

PAGES

542-544

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/317542a0

DOI

http://dx.doi.org/10.1038/317542a0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1050696526

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/2995836


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/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, 16-18", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Restriction Enzymes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Linkage", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polycystic Kidney Diseases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Genetic", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK", 
          "id": "http://www.grid.ac/institutes/grid.8348.7", 
          "name": [
            "Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Reeders", 
        "givenName": "S. T.", 
        "id": "sg:person.01325015424.66", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325015424.66"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Instituut voor Anthropogenetica, Sylvius Laboratoria, Rijksuniversiteit, Leiden, The Netherlands", 
          "id": "http://www.grid.ac/institutes/grid.5132.5", 
          "name": [
            "Instituut voor Anthropogenetica, Sylvius Laboratoria, Rijksuniversiteit, Leiden, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Breuning", 
        "givenName": "M. H.", 
        "id": "sg:person.015124601037.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015124601037.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK", 
          "id": "http://www.grid.ac/institutes/grid.8348.7", 
          "name": [
            "Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Davies", 
        "givenName": "K. E.", 
        "id": "sg:person.015506710312.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015506710312.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "MRC Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK", 
          "id": "http://www.grid.ac/institutes/grid.8348.7", 
          "name": [
            "MRC Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nicholls", 
        "givenName": "R. D.", 
        "id": "sg:person.01335120073.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01335120073.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "MRC Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK", 
          "id": "http://www.grid.ac/institutes/grid.8348.7", 
          "name": [
            "MRC Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jarman", 
        "givenName": "A. P.", 
        "id": "sg:person.01051046615.61", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051046615.61"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "MRC Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK", 
          "id": "http://www.grid.ac/institutes/grid.8348.7", 
          "name": [
            "MRC Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Higgs", 
        "givenName": "D. R.", 
        "id": "sg:person.01135222745.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01135222745.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Instituut voor Anthropogenetica, Sylvius Laboratoria, Rijksuniversiteit, Leiden, The Netherlands", 
          "id": "http://www.grid.ac/institutes/grid.5132.5", 
          "name": [
            "Instituut voor Anthropogenetica, Sylvius Laboratoria, Rijksuniversiteit, Leiden, The Netherlands"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pearson", 
        "givenName": "P. L.", 
        "id": "sg:person.0737614260.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737614260.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "MRC Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK", 
          "id": "http://www.grid.ac/institutes/grid.8348.7", 
          "name": [
            "Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK", 
            "MRC Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Weatherall", 
        "givenName": "D. J.", 
        "id": "sg:person.01272024671.79", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01272024671.79"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/bf00279301", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018665713", 
          "https://doi.org/10.1007/bf00279301"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/306234a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008727690", 
          "https://doi.org/10.1038/306234a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/314067a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047897100", 
          "https://doi.org/10.1038/314067a0"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1985-10-01", 
    "datePublishedReg": "1985-10-01", 
    "description": "Adult polycystic kidney disease (APCKD) is a common and often lethal multi-organ disease with an autosomal dominant pattern of inheritance; approximately 1 in 1,000 people carry the mutant gene1. The major pathological abnormality is the development and progressive enlargement of cysts in several organs including the liver, pancreas and spleen as well as the kidneys. The basic biochemical defect which leads to the formation of cysts remains unknown2. Cyst development, which is not retarded by any known therapy, leads to irreversible renal failure and death at a mean age of 51 unless dialysis or transplantation are used3. Patients with the disease account for 9% of chronic dialysis requirement4. The first symptoms tend to occur in the fourth decade, after most patients have reproduced3. Presymptomatic diagnosis depends on the ultrasonographic detection of cysts, but exclusion cannot be achieved by this means; 34% of at-risk patients in the second decade and 14% in the third will go on to develop cysts after negative diagnosis5. The low sensitivity of diagnostic techniques in this critical age-range imposes severe limitations on genetic counselling and the condition cannot be identified prenatally. Hence we have searched for a linkage marker for APCKD; we show here that the APCKD locus is closely linked to the \u03b1-globin locus on the short arm of chromosome 16 (\u1e91 = 25.85, \u03b8\u0302=0.05).", 
    "genre": "article", 
    "id": "sg:pub.10.1038/317542a0", 
    "inLanguage": "en", 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1018957", 
        "issn": [
          "0028-0836", 
          "1476-4687"
        ], 
        "name": "Nature", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "6037", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "317"
      }
    ], 
    "keywords": [
      "adult polycystic kidney disease", 
      "polycystic kidney disease", 
      "kidney disease", 
      "major pathological abnormalities", 
      "irreversible renal failure", 
      "multi-organ disease", 
      "autosomal dominant pattern", 
      "renal failure", 
      "most patients", 
      "risk patients", 
      "formation of cysts", 
      "mean age", 
      "ultrasonographic detection", 
      "pathological abnormalities", 
      "first symptoms", 
      "fourth decade", 
      "progressive enlargement", 
      "disease account", 
      "patients", 
      "basic biochemical defect", 
      "cysts", 
      "cyst development", 
      "disease", 
      "biochemical defect", 
      "presymptomatic diagnosis", 
      "diagnostic techniques", 
      "chromosome 16", 
      "genetic counselling", 
      "second decade", 
      "low sensitivity", 
      "markers", 
      "dominant pattern", 
      "transplantation", 
      "therapy", 
      "spleen", 
      "symptoms", 
      "pancreas", 
      "kidney", 
      "abnormalities", 
      "liver", 
      "diagnosis", 
      "dialysis", 
      "death", 
      "age", 
      "counselling", 
      "enlargement", 
      "organs", 
      "short arm", 
      "third", 
      "failure", 
      "arm", 
      "gene1", 
      "development", 
      "unknown2", 
      "sensitivity", 
      "defects", 
      "exclusion", 
      "decades", 
      "severe limitations", 
      "people", 
      "loci", 
      "patterns", 
      "used3", 
      "detection", 
      "linkage markers", 
      "inheritance", 
      "limitations", 
      "conditions", 
      "technique", 
      "polymorphic DNA (RAPD) markers", 
      "formation", 
      "DNA markers", 
      "account", 
      "globin locus", 
      "lethal multi-organ disease", 
      "mutant gene1", 
      "chronic dialysis requirement4", 
      "dialysis requirement4", 
      "requirement4", 
      "reproduced3", 
      "negative diagnosis5", 
      "diagnosis5", 
      "APCKD locus"
    ], 
    "name": "A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16", 
    "pagination": "542-544", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1050696526"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/317542a0"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "2995836"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/317542a0", 
      "https://app.dimensions.ai/details/publication/pub.1050696526"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-01-01T18:04", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_199.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1038/317542a0"
  }
]
 

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.10.1038/317542a0'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/317542a0'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/317542a0'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/317542a0'


 

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

251 TRIPLES      22 PREDICATES      122 URIs      111 LITERALS      17 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/317542a0 schema:about N177619a2064c48398723cb1bb68a3fbc
2 N8961c928cad24daeabb6acb711121c06
3 N903e8bcf37a742f2817378fd3fedb0b3
4 N9040e1cbd4fd4e2380c8e669e0ad9a17
5 Nad7f83032d5047c48de04c186005023f
6 Ne78794d70bdf4b0b9525a70f2f173cdc
7 Ned1a6cd84076430f92379ca8858b2e4c
8 Nf071f1c6035241d7b81fc39885bc1442
9 Nf81e902f87044af3bbb4d32481b160ed
10 Nf86a5444d00248ac963d9aa879ba418e
11 anzsrc-for:11
12 anzsrc-for:1103
13 schema:author N1499d59b5ae4469c9434be8fb36021aa
14 schema:citation sg:pub.10.1007/bf00279301
15 sg:pub.10.1038/306234a0
16 sg:pub.10.1038/314067a0
17 schema:datePublished 1985-10-01
18 schema:datePublishedReg 1985-10-01
19 schema:description Adult polycystic kidney disease (APCKD) is a common and often lethal multi-organ disease with an autosomal dominant pattern of inheritance; approximately 1 in 1,000 people carry the mutant gene1. The major pathological abnormality is the development and progressive enlargement of cysts in several organs including the liver, pancreas and spleen as well as the kidneys. The basic biochemical defect which leads to the formation of cysts remains unknown2. Cyst development, which is not retarded by any known therapy, leads to irreversible renal failure and death at a mean age of 51 unless dialysis or transplantation are used3. Patients with the disease account for 9% of chronic dialysis requirement4. The first symptoms tend to occur in the fourth decade, after most patients have reproduced3. Presymptomatic diagnosis depends on the ultrasonographic detection of cysts, but exclusion cannot be achieved by this means; 34% of at-risk patients in the second decade and 14% in the third will go on to develop cysts after negative diagnosis5. The low sensitivity of diagnostic techniques in this critical age-range imposes severe limitations on genetic counselling and the condition cannot be identified prenatally. Hence we have searched for a linkage marker for APCKD; we show here that the APCKD locus is closely linked to the α-globin locus on the short arm of chromosome 16 (ẑ = 25.85, θ̂=0.05).
20 schema:genre article
21 schema:inLanguage en
22 schema:isAccessibleForFree false
23 schema:isPartOf Nafc61c98f53c40588e8c8191203fc70c
24 Nfc7e7c71a2914442a7ce8b6e7f420fbf
25 sg:journal.1018957
26 schema:keywords APCKD locus
27 DNA markers
28 abnormalities
29 account
30 adult polycystic kidney disease
31 age
32 arm
33 autosomal dominant pattern
34 basic biochemical defect
35 biochemical defect
36 chromosome 16
37 chronic dialysis requirement4
38 conditions
39 counselling
40 cyst development
41 cysts
42 death
43 decades
44 defects
45 detection
46 development
47 diagnosis
48 diagnosis5
49 diagnostic techniques
50 dialysis
51 dialysis requirement4
52 disease
53 disease account
54 dominant pattern
55 enlargement
56 exclusion
57 failure
58 first symptoms
59 formation
60 formation of cysts
61 fourth decade
62 gene1
63 genetic counselling
64 globin locus
65 inheritance
66 irreversible renal failure
67 kidney
68 kidney disease
69 lethal multi-organ disease
70 limitations
71 linkage markers
72 liver
73 loci
74 low sensitivity
75 major pathological abnormalities
76 markers
77 mean age
78 most patients
79 multi-organ disease
80 mutant gene1
81 negative diagnosis5
82 organs
83 pancreas
84 pathological abnormalities
85 patients
86 patterns
87 people
88 polycystic kidney disease
89 polymorphic DNA (RAPD) markers
90 presymptomatic diagnosis
91 progressive enlargement
92 renal failure
93 reproduced3
94 requirement4
95 risk patients
96 second decade
97 sensitivity
98 severe limitations
99 short arm
100 spleen
101 symptoms
102 technique
103 therapy
104 third
105 transplantation
106 ultrasonographic detection
107 unknown2
108 used3
109 schema:name A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
110 schema:pagination 542-544
111 schema:productId N48afe541d3f540e6bde6c3dd8161b7b4
112 N6e6ec97d2d62447aa57dbd784dcf162f
113 Nefc308e1964743df81a9fcc791829b44
114 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050696526
115 https://doi.org/10.1038/317542a0
116 schema:sdDatePublished 2022-01-01T18:04
117 schema:sdLicense https://scigraph.springernature.com/explorer/license/
118 schema:sdPublisher Ncd98d1cadb0642e8b46378d03b939f3e
119 schema:url https://doi.org/10.1038/317542a0
120 sgo:license sg:explorer/license/
121 sgo:sdDataset articles
122 rdf:type schema:ScholarlyArticle
123 N0f7d0365252a4d848b47027d50c7fe4a rdf:first sg:person.01272024671.79
124 rdf:rest rdf:nil
125 N1499d59b5ae4469c9434be8fb36021aa rdf:first sg:person.01325015424.66
126 rdf:rest Ndc3a703ac6f0481a9f39ca4744729ac1
127 N177619a2064c48398723cb1bb68a3fbc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
128 schema:name Chromosomes, Human, 16-18
129 rdf:type schema:DefinedTerm
130 N472939cfc5094923b86c2be01176b929 rdf:first sg:person.01051046615.61
131 rdf:rest Nc1a3c6eeae294c23922ceab50f8126fb
132 N48afe541d3f540e6bde6c3dd8161b7b4 schema:name dimensions_id
133 schema:value pub.1050696526
134 rdf:type schema:PropertyValue
135 N64e56cbc04e64049aa386f03dcd48cc5 rdf:first sg:person.01335120073.00
136 rdf:rest N472939cfc5094923b86c2be01176b929
137 N6e6ec97d2d62447aa57dbd784dcf162f schema:name pubmed_id
138 schema:value 2995836
139 rdf:type schema:PropertyValue
140 N8961c928cad24daeabb6acb711121c06 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
141 schema:name DNA Restriction Enzymes
142 rdf:type schema:DefinedTerm
143 N903e8bcf37a742f2817378fd3fedb0b3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
144 schema:name DNA
145 rdf:type schema:DefinedTerm
146 N9040e1cbd4fd4e2380c8e669e0ad9a17 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
147 schema:name Humans
148 rdf:type schema:DefinedTerm
149 Nad7f83032d5047c48de04c186005023f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
150 schema:name Polymorphism, Genetic
151 rdf:type schema:DefinedTerm
152 Nafc61c98f53c40588e8c8191203fc70c schema:issueNumber 6037
153 rdf:type schema:PublicationIssue
154 Nc1a3c6eeae294c23922ceab50f8126fb rdf:first sg:person.01135222745.44
155 rdf:rest Nd69a75fc9eb24e169de8565abe60db7e
156 Ncd98d1cadb0642e8b46378d03b939f3e schema:name Springer Nature - SN SciGraph project
157 rdf:type schema:Organization
158 Nd69a75fc9eb24e169de8565abe60db7e rdf:first sg:person.0737614260.29
159 rdf:rest N0f7d0365252a4d848b47027d50c7fe4a
160 Ndc3a703ac6f0481a9f39ca4744729ac1 rdf:first sg:person.015124601037.48
161 rdf:rest Nf65a51579bb040078b287b3f446235cc
162 Ne78794d70bdf4b0b9525a70f2f173cdc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
163 schema:name Male
164 rdf:type schema:DefinedTerm
165 Ned1a6cd84076430f92379ca8858b2e4c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
166 schema:name Pedigree
167 rdf:type schema:DefinedTerm
168 Nefc308e1964743df81a9fcc791829b44 schema:name doi
169 schema:value 10.1038/317542a0
170 rdf:type schema:PropertyValue
171 Nf071f1c6035241d7b81fc39885bc1442 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
172 schema:name Polycystic Kidney Diseases
173 rdf:type schema:DefinedTerm
174 Nf65a51579bb040078b287b3f446235cc rdf:first sg:person.015506710312.55
175 rdf:rest N64e56cbc04e64049aa386f03dcd48cc5
176 Nf81e902f87044af3bbb4d32481b160ed schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
177 schema:name Female
178 rdf:type schema:DefinedTerm
179 Nf86a5444d00248ac963d9aa879ba418e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
180 schema:name Genetic Linkage
181 rdf:type schema:DefinedTerm
182 Nfc7e7c71a2914442a7ce8b6e7f420fbf schema:volumeNumber 317
183 rdf:type schema:PublicationVolume
184 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
185 schema:name Medical and Health Sciences
186 rdf:type schema:DefinedTerm
187 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
188 schema:name Clinical Sciences
189 rdf:type schema:DefinedTerm
190 sg:journal.1018957 schema:issn 0028-0836
191 1476-4687
192 schema:name Nature
193 schema:publisher Springer Nature
194 rdf:type schema:Periodical
195 sg:person.01051046615.61 schema:affiliation grid-institutes:grid.8348.7
196 schema:familyName Jarman
197 schema:givenName A. P.
198 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051046615.61
199 rdf:type schema:Person
200 sg:person.01135222745.44 schema:affiliation grid-institutes:grid.8348.7
201 schema:familyName Higgs
202 schema:givenName D. R.
203 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01135222745.44
204 rdf:type schema:Person
205 sg:person.01272024671.79 schema:affiliation grid-institutes:grid.8348.7
206 schema:familyName Weatherall
207 schema:givenName D. J.
208 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01272024671.79
209 rdf:type schema:Person
210 sg:person.01325015424.66 schema:affiliation grid-institutes:grid.8348.7
211 schema:familyName Reeders
212 schema:givenName S. T.
213 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325015424.66
214 rdf:type schema:Person
215 sg:person.01335120073.00 schema:affiliation grid-institutes:grid.8348.7
216 schema:familyName Nicholls
217 schema:givenName R. D.
218 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01335120073.00
219 rdf:type schema:Person
220 sg:person.015124601037.48 schema:affiliation grid-institutes:grid.5132.5
221 schema:familyName Breuning
222 schema:givenName M. H.
223 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015124601037.48
224 rdf:type schema:Person
225 sg:person.015506710312.55 schema:affiliation grid-institutes:grid.8348.7
226 schema:familyName Davies
227 schema:givenName K. E.
228 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015506710312.55
229 rdf:type schema:Person
230 sg:person.0737614260.29 schema:affiliation grid-institutes:grid.5132.5
231 schema:familyName Pearson
232 schema:givenName P. L.
233 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737614260.29
234 rdf:type schema:Person
235 sg:pub.10.1007/bf00279301 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018665713
236 https://doi.org/10.1007/bf00279301
237 rdf:type schema:CreativeWork
238 sg:pub.10.1038/306234a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008727690
239 https://doi.org/10.1038/306234a0
240 rdf:type schema:CreativeWork
241 sg:pub.10.1038/314067a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047897100
242 https://doi.org/10.1038/314067a0
243 rdf:type schema:CreativeWork
244 grid-institutes:grid.5132.5 schema:alternateName Instituut voor Anthropogenetica, Sylvius Laboratoria, Rijksuniversiteit, Leiden, The Netherlands
245 schema:name Instituut voor Anthropogenetica, Sylvius Laboratoria, Rijksuniversiteit, Leiden, The Netherlands
246 rdf:type schema:Organization
247 grid-institutes:grid.8348.7 schema:alternateName MRC Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK
248 Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK
249 schema:name MRC Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK
250 Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK
251 rdf:type schema:Organization
 




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


...