Article
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.
Nature genetics - 1 Sept 1992
Kandt R S, Haines J L, Smith M, Northrup H, Gardner R J, Short M P, Dumars K, Roach E S, Steingold S, Wall S
Abstract excerpt
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of unknown aetiology that affects numerous body systems including skin, brain and kidneys. Some TSC has been linked to chromosome 9, additional TSC genes on chromosomes 11 and 12 have been proposed, but the majority of TSC families remain unlinked. Using TSC families in which data had excluded linkage to chromosome 9, we failed to detect linkage...
Topics
- Alleles
- Chromosomes, Human, Pair 16
- Female
- Genes, Dominant
- Genetic Linkage
- Genetic Markers
- Humans
- Lod Score
- Male
- Pedigree
- Polycystic Kidney, Autosomal Dominant