Article
Autosomal dominant polycystic kidney disease: from molecular genetics to the patients.
The Clinical investigator - 1 Sept 1992
Grünfeld J P, Chauveau D, Knebelmann B
Abstract excerpt
One of the gene loci (PKD1) responsible for autosomal dominant polycystic kidney disease was located in 1985 to the short arm of chromosome 16. The clinical consequences of this finding are analyzed. Genetic heterogeneity has been demonstrated since 5%-15% of the families inherit a non-PKD1 mutation. Progress in molecular genetics allows better classification of patients with some atypical manifestations, e.g.,...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 16
- Humans
- Mutation
- Polycystic Kidney, Autosomal Dominant