
doi: 10.1038/30639
pmid: 9620796
A high proportion of all cases of congenital deafness is causedby mutations in a gene coding for a gap-junction protein,connexin 26. The deafness associated with this gene, Cx26, is the autosomal recessive form, DFNB1(refs 1–3); its involvement in autosomal dominant forms of deafness has remained controversial4. Here we show that a mutation in Cx26 underlies the dominant form of deafness, DFNA3.
Polymorphism, Genetic, Chromosomes, Human, Pair 13, DNA Mutational Analysis, Deafness, Connexins, [SDV] Life Sciences [q-bio], Connexin 26, Mutation, Humans, Cysteine, Genes, Dominant
Polymorphism, Genetic, Chromosomes, Human, Pair 13, DNA Mutational Analysis, Deafness, Connexins, [SDV] Life Sciences [q-bio], Connexin 26, Mutation, Humans, Cysteine, Genes, Dominant
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