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Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

✍ Scribed by Niloofar Bazazzadegan; Abraham M. Sheffield; Masoomeh Sobhani; Kimia Kahrizi; Nicole C. Meyer; Guy Van Camp; Nele Hilgert; Seyedeh Sedigheh Abedini; Farkhondeh Habibi; Ahmad Daneshi; Carla Nishimura; Matthew R. Avenarius; Mohammad Farhadi; Richard J.H. Smith; Hossein Najmabadi


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
701 KB
Volume
155
Category
Article
ISSN
1552-4825

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GJB2 mutations in Iranians with autosoma
✍ Hossein Najmabadi; Robert A. Cucci; Solmaz Sahebjam; Nafiseh Kouchakian; Mohamma πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 142 KB

Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for ~ 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that e