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- W2039853214 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." @default.
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- W2039853214 date "1995-02-01" @default.
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- W2039853214 title "Evidence for a third genetic locus for autosomal dominant polycystic kidney disease" @default.
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- W2039853214 doi "https://doi.org/10.1016/0888-7543(95)80020-m" @default.
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