Article
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease.
Lancet (London, England) - 28 Nov 1992
Ravine D, Walker R G, Gibson R N, Forrest S M, Richards R I, Friend K, Sheffield L J, Kincaid-Smith P, Danks D M
Abstract excerpt
It is now clear that mutations of at least two genetic loci can lead to autosomal dominant polycystic kidney disease (ADPKD). We have compared the clinical features of ADPKD caused by mutations at the PKD1 locus (linked to the alpha-globin complex on chromosome 16) with those of disease not linked to the locus (non-PKD1). We identified 18 families (285 affected members) with mutations at PKD1 and 5 families (49...
Topics
- Adolescent
- Adult
- Age Factors
- Child
- Child, Preschool
- Chromosome Mapping
- Diagnosis, Differential
- Evaluation Studies as Topic
- Genotype
- Humans
- Infant