Frequencies of GJB2 mutations in German
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Susan Kupka; Simone Braun; Susanne Aberle; Birgit Haack; Margret Ebauer; Ulrike
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Article
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2002
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John Wiley and Sons
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English
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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 patie