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GJB2 and GJB6 Mutations in 165 Danish Patients Showing Non-Syndromic Hearing Impairment

✍ Scribed by Grønskov, Karen; Larsen, Lars Allan; Rendtorff, Nanna Dahl; Parving, Agnete; Nørgaard-Pedersen, Bent; Brøndum-Nielsen, Karen

Book ID
120469289
Publisher
Mary Ann Liebert
Year
2004
Tongue
English
Weight
56 KB
Volume
8
Category
Article
ISSN
1090-6576

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Frequencies of GJB2 mutations in German
Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment
✍ Susan Kupka; Simone Braun; Susanne Aberle; Birgit Haack; Margret Ebauer; Ulrike 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 197 KB

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