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  • Title: Evidence for a third genetic locus for autosomal dominant polycystic kidney disease.
    Author: Daoust MC, Reynolds DM, Bichet DG, Somlo S.
    Journal: Genomics; 1995 Feb 10; 25(3):733-6. PubMed ID: 7759112.
    Abstract:
    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.
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