Article
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
Human molecular genetics - 1 Nov 1997
Carrasquillo M M, Zlotogora J, Barges S, Chakravarti A
Abstract excerpt
Non-syndromic recessive deafness (NSRD) is the most common form of prelingual hereditary hearing loss. To date, 10 autosomal NSRD loci (DFNBs) have been identified by genetic mapping; at least three times as many additional loci are expected to be identified. We have performed linkage analyses in...
Topics
- Chromosomes, Human, Pair 13
- Connexin 26
- Connexins
- Consanguinity
- Deafness
- Genetic Linkage
- Haplotypes
- Humans
- Mutation
- Pedigree
