Article
Deficient membrane integration of the novel p.N14D-GJB2 mutant associated with non-syndromic hearing impairment.
Human mutation - 1 Nov 2006
Haack B, Schmalisch K, Palmada M, Böhmer C, Kohlschmidt N, Keilmann A, Zechner U, Limberger A, Beckert S, Zenner H P, Lang F, Kupka S
Abstract excerpt
Mutations in GJB2, the gene encoding for the Gap Junction protein Connexin 26 (Cx26), have been established as the major cause of hereditary, non-syndromic hearing impairment (HI). We report here the identification of a novel point mutation in GJB2, c.40A>G [p.N14D], detected in compound heterozygosity with the c.35delG mutation in two brothers with moderate non-syndromic sensorineural HI. The mother who carried...
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