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Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment

✍ Scribed by Seema Bhalla; Rajni Sharma; Gaurav Khandelwal; Naresh K. Panda; Madhu Khullar


Book ID
116298682
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
161 KB
Volume
385
Category
Article
ISSN
0006-291X

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Frequencies of GJB2 mutations in German
✍ Susan Kupka; Simone Braun; Susanne Aberle; Birgit Haack; Margret Ebauer; Ulrike πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 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