Article
Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment.
Human mutation - 1 Jul 2002
Kupka Susan, Braun Simone, Aberle Susanne, Haack Birgit, Ebauer Margret, Zeissler Ulrike, Zenner Hans-Peter, Blin Nikolaus, Pfister Markus
Abstract excerpt
Mutations in the GJB2 gene encoding the gap-junction protein connexin 26 have been identified in many patients with childhood hearing impairment (HI). One single mutation, 35delG (30delG), accounts for up to 70% of all analyzed European patients with autosomal recessive inherited HI and 10% of patients with HI of unknown origin, respectively. We screened 188 control individuals and 342 German patients with...
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