𝔖 Bobbio Scriptorium
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A large cohort study of GJB2 mutations in Japanese hearing loss patients

✍ Scribed by K Tsukada; S Nishio; S Usami; the Deafness Gene Study Consortium


Book ID
110889017
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
1017 KB
Volume
78
Category
Article
ISSN
0009-9163

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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