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Variability in noise susceptibility in a Swedish population: the role of 35delG mutation in the connexin 26 (GJB2) gene

✍ Scribed by Carlsson, Per‐Inge; Borg, Erik; Grip, Lars; Dahl, Niklas; Bondeson, Marie‐Louise


Book ID
120224110
Publisher
Informa plc
Year
2004
Tongue
English
Weight
251 KB
Volume
2
Category
Article
ISSN
1651-386X

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Mutation analysis of the GJB2 (Connexin
✍ Rikkert L. Snoeckx; Dalia M. Hassan; Nadia M. Kamal; Kris Van Den Bogaert; Guy V 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 58 KB

Fifty to eighty percent of autosomal recessive deafness is due to mutations in the GJB2 gene encoding connexin 26. Among Caucasians, the c.35delG mutation in this gene accounts for up to 30 to 70% of all cases with early childhood deafness. In this study, we present the analysis of the GJB2 gene in