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    Nat Genet. 1993 Dec;5(4):359-62.

    Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease.

    Peters DJ, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, van Eijk R, Nørby S, Constantinou-Deltas CD, et al.

    Department of Human Genetics, Leiden University, Sylvius Laboratories, The Netherlands.

    Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. A gene defect located on the short arm of chromosome 16 is responsible for the disease in roughly 86% of affected European families. Using highly polymorphic microsatellite DNA markers, we have assigned a second gene for ADPKD to chromosome 4. In eight families with clear evidence against linkage to chromosome 16 markers, linkage analysis with the markers D4S231 and D4S423, demonstrated a multipoint lod score of 22.42.

    PMID: 8298643 [PubMed - indexed for MEDLINE]

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