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rdf:type |
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lifeskim:mentions |
umls-concept:C0001675,
umls-concept:C0015576,
umls-concept:C0017337,
umls-concept:C0022680,
umls-concept:C0208973,
umls-concept:C0376315,
umls-concept:C1418599,
umls-concept:C1418600,
umls-concept:C1517892,
umls-concept:C1520677,
umls-concept:C1527180,
umls-concept:C1538717,
umls-concept:C1553583,
umls-concept:C1704666
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pubmed:issue |
7
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pubmed:dateCreated |
1997-9-18
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pubmed:abstractText |
Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease. Most families show positive linkage to polymorphic markers around the PKD1 (16p13.3) or PKD2 (4q21-23) loci. The PKD1 and PKD2 genes have been cloned and mutations defined in a number of patients. Several clinical studies have described a milder phenotype for PKD2 patients. More recently, evidence for a third genetic locus has been found in one Portuguese, one French-Canadian, and one Italian family. We identified a Spanish family with negative linkage to the PKD1 and the PKD2 loci. This family showed a very mild clinical phenotype compared to the other forms of ADPKD, including the non-PKD1/non-PKD2 families previously described.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-1583643,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-1605247,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-1683919,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-7581371,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-7607660,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-7663510,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-7666395,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-7759112,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-7789949,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-7909986,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-8298643,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-8307555,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-8554072,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-8650545,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-8911610,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222969-9158217
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0022-2593
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
34
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
587-9
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:9222969-Adult,
pubmed-meshheading:9222969-Chromosomes, Human, Pair 16,
pubmed-meshheading:9222969-Chromosomes, Human, Pair 4,
pubmed-meshheading:9222969-Cloning, Molecular,
pubmed-meshheading:9222969-Female,
pubmed-meshheading:9222969-Genetic Heterogeneity,
pubmed-meshheading:9222969-Genetic Linkage,
pubmed-meshheading:9222969-Humans,
pubmed-meshheading:9222969-Male,
pubmed-meshheading:9222969-Membrane Proteins,
pubmed-meshheading:9222969-Microsatellite Repeats,
pubmed-meshheading:9222969-Mutation,
pubmed-meshheading:9222969-Pedigree,
pubmed-meshheading:9222969-Polycystic Kidney, Autosomal Dominant,
pubmed-meshheading:9222969-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:9222969-Proteins,
pubmed-meshheading:9222969-TRPP Cation Channels
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pubmed:year |
1997
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pubmed:articleTitle |
A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.
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pubmed:affiliation |
Laboratorio de Genétíca Molecular, Hospital Central de Asturies, Oviedo, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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