Article
Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
American journal of human genetics - 1 Oct 1992
Northrup H, Kwiatkowski D J, Roach E S, Dobyns W B, Lewis R A, Herman G E, Rodriguez E, Daiger S P, Blanton S H
Abstract excerpt
Linkage of tuberous sclerosis complex (TSC), an autosomal dominant disorder, to markers on chromosome 9 was reported first in 1987. This assignment was confirmed by an international collaborative study that suggested more than one locus may be responsible for the phenotype. We studied 14 multigenerational TSC families (13 previously unreported) with markers for nine loci in the linked region of chromosome...
Topics
- Alleles
- Cell Line
- Chromosome Mapping
- Chromosomes, Human, Pair 9
- Female
- Fibroma
- Genes, Dominant
- Genetic Linkage
- Genetic Markers
- Humans
- Male