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.
Original language | English (US) |
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Pages (from-to) | 733-736 |
Number of pages | 4 |
Journal | Genomics |
Volume | 25 |
Issue number | 3 |
DOIs | |
State | Published - Feb 10 1995 |
ASJC Scopus subject areas
- Genetics