| pubmed-article:9222969 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C0001675 | lld:lifeskim |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C0022680 | lld:lifeskim |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C1520677 | lld:lifeskim |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C1418600 | lld:lifeskim |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C1418599 | lld:lifeskim |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C1538717 | lld:lifeskim |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C0376315 | lld:lifeskim |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C1704666 | lld:lifeskim |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C1517892 | lld:lifeskim |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C1527180 | lld:lifeskim |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C0208973 | lld:lifeskim |
| pubmed-article:9222969 | lifeskim:mentions | umls-concept:C1553583 | lld:lifeskim |
| pubmed-article:9222969 | pubmed:issue | 7 | lld:pubmed |
| pubmed-article:9222969 | pubmed:dateCreated | 1997-9-18 | lld:pubmed |
| pubmed-article:9222969 | 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. | lld:pubmed |
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| pubmed-article:9222969 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9222969 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9222969 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:9222969 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9222969 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:9222969 | pubmed:issn | 0022-2593 | lld:pubmed |
| pubmed-article:9222969 | pubmed:author | pubmed-author:AlvarezJJ | lld:pubmed |
| pubmed-article:9222969 | pubmed:author | pubmed-author:CottNN | lld:pubmed |
| pubmed-article:9222969 | pubmed:author | pubmed-author:AlvarezVV | lld:pubmed |
| pubmed-article:9222969 | pubmed:author | pubmed-author:AguadoSS | lld:pubmed |
| pubmed-article:9222969 | pubmed:author | pubmed-author:López-LarreaC... | lld:pubmed |
| pubmed-article:9222969 | pubmed:author | pubmed-author:MarínRR | lld:pubmed |
| pubmed-article:9222969 | pubmed:author | pubmed-author:ArizaMM | lld:pubmed |
| pubmed-article:9222969 | pubmed:author | pubmed-author:MenéndezM JMJ | lld:pubmed |
| pubmed-article:9222969 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9222969 | pubmed:volume | 34 | lld:pubmed |
| pubmed-article:9222969 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9222969 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9222969 | pubmed:pagination | 587-9 | lld:pubmed |
| pubmed-article:9222969 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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| pubmed-article:9222969 | pubmed:meshHeading | pubmed-meshheading:9222969-... | lld:pubmed |
| pubmed-article:9222969 | pubmed:year | 1997 | lld:pubmed |
| pubmed-article:9222969 | pubmed:articleTitle | A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. | lld:pubmed |
| pubmed-article:9222969 | pubmed:affiliation | Laboratorio de Genétíca Molecular, Hospital Central de Asturies, Oviedo, Spain. | lld:pubmed |
| pubmed-article:9222969 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9222969 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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