pubmed-article:7759112 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:7759112 | lifeskim:mentions | umls-concept:C0085413 | lld:lifeskim |
pubmed-article:7759112 | lifeskim:mentions | umls-concept:C0678933 | lld:lifeskim |
pubmed-article:7759112 | lifeskim:mentions | umls-concept:C0332120 | lld:lifeskim |
pubmed-article:7759112 | pubmed:issue | 3 | lld:pubmed |
pubmed-article:7759112 | pubmed:dateCreated | 1995-6-29 | lld:pubmed |
pubmed-article:7759112 | pubmed:abstractText | Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease with loci on chromosomes 16p and 4q. It has a moderately high spontaneous mutation rate, although the relative frequency of such mutations at each gene locus is unknown. In studying genetic heterogeneity in the French-Canadian population, we identified a family in which a classical clinical presentation of ADPKD resulted from a mutation at a locus genetically distinct from either of the previously described loci for this disease. This suggests the existence of a third genetic locus for ADPKD. | lld:pubmed |
pubmed-article:7759112 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:7759112 | pubmed:language | eng | lld:pubmed |
pubmed-article:7759112 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:7759112 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:7759112 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:7759112 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:7759112 | pubmed:month | Feb | lld:pubmed |
pubmed-article:7759112 | pubmed:issn | 0888-7543 | lld:pubmed |
pubmed-article:7759112 | pubmed:author | pubmed-author:ReynoldsD MDM | lld:pubmed |
pubmed-article:7759112 | pubmed:author | pubmed-author:BichetD GDG | lld:pubmed |
pubmed-article:7759112 | pubmed:author | pubmed-author:SomloSS | lld:pubmed |
pubmed-article:7759112 | pubmed:author | pubmed-author:DaoustM CMC | lld:pubmed |
pubmed-article:7759112 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:7759112 | pubmed:day | 10 | lld:pubmed |
pubmed-article:7759112 | pubmed:volume | 25 | lld:pubmed |
pubmed-article:7759112 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:7759112 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:7759112 | pubmed:pagination | 733-6 | lld:pubmed |
pubmed-article:7759112 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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pubmed-article:7759112 | pubmed:meshHeading | pubmed-meshheading:7759112-... | lld:pubmed |
pubmed-article:7759112 | pubmed:year | 1995 | lld:pubmed |
pubmed-article:7759112 | pubmed:articleTitle | Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. | lld:pubmed |
pubmed-article:7759112 | pubmed:affiliation | Department of Biochemistry, Hôpital du Sacré-Coeur de Montréal, Université de Montréal, Québec, Canada. | lld:pubmed |
pubmed-article:7759112 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:7759112 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
pubmed-article:7759112 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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