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GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis


Book ID
110888101
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
87 KB
Volume
68
Category
Article
ISSN
0009-9163

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Frequencies of GJB2 mutations in German
✍ 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