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Mutation in gap and tight junctions in patients with non-syndromic hearing loss

✍ Scribed by Hanen Belguith; Abedelaziz Tlili; Houria Dhouib; Imen Ben Rebeh; Imed Lahmar; Ilhem Charfeddine; Nabil Driss; Abdelmonem Ghorbel; Hammadi Ayadi; Saber Masmoudi


Book ID
116298302
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
262 KB
Volume
385
Category
Article
ISSN
0006-291X

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GJB2 mutations in patients with non-synd
✍ TΓ­mea TΓ³th; Susan Kupka; Birgit Haack; Kathrin Riemann; Simone Braun; Ferenc Faz πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 68 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, c.35delG, accounts for the majority of mutations in Caucasian patients with HI. In the present study we screened 500 healthy con