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GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland

✍ Scribed by Homøe, Preben; Koch, Anders; Rendtorff, Nanna Dahl; Lodahl, Marianne; Andersen, Ture; Andersen, Stig; Eiberg, Hans; Nielsen, Inge-Merete; Tranebjærg, Lisbeth


Book ID
127187552
Publisher
Informa plc
Year
2012
Tongue
English
Weight
62 KB
Volume
51
Category
Article
ISSN
1499-2027

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Mutations in the connexin26/GJB2 gene ar
✍ Heinz Gabriel; Petra Kupsch; Jürgen Sudendey; Elke Winterhager; Klaus Jahnke; Jü 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB

Congenital sensorineural hearing loss affects approximately 1/1,000 live births. Mutations in the gene encoding connexin26 (GJB2) have been described as a major cause of genetic nonsyndromic hearing impairment. Additionally, another gap junction gene, connexin30 (GJB6), was found to be responsible f