Article
Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).
PloS one - 1 Jan 2011
Rodriguez-Paris Juan, Tamayo Marta L, Gelvez Nancy, Schrijver Iris
Abstract excerpt
Mutations in the GJB2 gene, which encodes connexin 26, are a frequent cause of congenital non-syndromic sensorineural hearing loss. Two large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854), which truncate GJB6 (connexin 30), cause hearing loss in individuals homozygous, or compound heterozygous for these deletions or one such deletion and a mutation in GJB2. Recently, we have demonstrated that the...
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