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Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment

✍ Scribed by M. Palmada; K. Schmalisch; C. Böhmer; N. Schug; M. Pfister; F. Lang; N. Blin

Book ID
113811932
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
394 KB
Volume
22
Category
Article
ISSN
0969-9961

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Clinical phenotype and mutations in conn
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
✍ Cohn, Edward S.; Kelley, Philip M. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 2 views

Mutations in the gene for connexin 26, GJB2, are the most common cause of hearing loss in American and European populations, with a carrier rate of about 3%-a rate similar to that for cystic fibrosis. A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1.