Article
DFNA5: hearing impairment exon instead of hearing impairment gene?
Journal of medical genetics - 1 Jun 2004
Van Laer L, Vrijens K, Thys S, Van Tendeloo V F I, Smith R J H, Van Bockstaele D R, Timmermans J-P, Van Camp G
Abstract excerpt
BACKGROUND: Three mutations in the DFNA5 gene have been described in three families with autosomal dominant non-syndromic hearing impairment. Although these mutations are different at the genomic DNA level, they all lead to skipping of exon 8 at the mRNA level. We hypothesise that hearing impairment associated with DFNA5 is caused by a highly unusual mechanism, in which skipping of one specific exon leads to...
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