Article
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.
Nature genetics - 1 Nov 2001
Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin T P, Del Castillo I, Nouaille S, Blanchard S, Lainé S, Popot J L, Moreno F, Mueller R F, Petit C
Abstract excerpt
Hearing impairment affects about 1 in 1,000 children at birth. Approximately 70 loci implicated in non-syndromic forms of deafness have been reported in humans and 24 causative genes have been identified (see also http://www.uia.ac.be/dnalab/hhh). We report a mouse transcript, isolated by a candidate deafness gene approach, that is expressed almost exclusively in the inner ear. Genomic analysis shows that the...
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