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GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia

✍ Scribed by Sansović, Ivona; Knežević, Jelena; Musani, Vesna; Seeman, Pavel; Barišić, Ingeborg; Pavelić, Jasminka


Book ID
115465367
Publisher
Mary Ann Liebert
Year
2009
Tongue
English
Weight
208 KB
Volume
13
Category
Article
ISSN
1945-0265

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GJB2 mutations in patients with non-synd
✍ Tímea Tóth; Susan Kupka; Birgit Haack; Kathrin Riemann; Simone Braun; Ferenc Faz 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 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