𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland

✍ Scribed by Tuija Löppönen; Marja-Leena Väisänen; Mirja Luotonen; Minna Allinen; Johanna Uusimaa; PÄIvi Lindholm; Elina Mäki-Torkko; Mirja Väyrynen; Heikki Löppönen; Jaakko Leisti

Book ID
110084492
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
705 KB
Volume
113
Category
Article
ISSN
0023-852X

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Pattern of connexin 26 (GJB2) mutations
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana
✍ Christoph Hamelmann; Geoffrey K. Amedofu; Katrin Albrecht; Birgit Muntau; Annett 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB

Mutations of the connexin 26 gene (GJB2) were studied in 365 apparently unrelated individuals with profound nonsyndromic, sensorineural hearing impairment from Ghana, West Africa. Among 121 mutated chromosomes found, 110 carried the previously described R143W mutation. A total of 6 novel mutations:

Identification of mutations in the conne
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
✍ DA Scott; ML Kraft; R Carmi; A Ramesh; K Elbedour; Y Yairi; C. R. Srikumari Sris 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB 👁 2 views

Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 loc