Article
Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population.
Journal of medical genetics - 1 Nov 1993
Peral B, San Millán J L, Hernández C, Valero A, Lathrop G M, Beckmann J S, Moreno F
Abstract excerpt
Although most mutations causing ADPKD in European populations have been mapped to the PKD1 locus on chromosome 16, some of them appear to be unlinked to this locus. To evaluate the incidence of unlinked mutations in Spain we have typed 31 Spanish families from different geographical sites for six...
Topics
- Alleles
- Chromosome Mapping
- Chromosomes, Human, Pair 16
- DNA Mutational Analysis
- DNA Probes
- Gene Frequency
- Humans
- Incidence
- Lod Score
- Mutation
- Polycystic Kidney, Autosomal Dominant
- Polymorphism, Restriction Fragment Length
- Spain