Article
GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.
Human mutation - 1 May 2002
Najmabadi Hossein, Cucci Robert A, Sahebjam Solmaz, Kouchakian Nafiseh, Farhadi Mohammad, Kahrizi Kimia, Arzhangi Sanaz, Daneshmandan Naiimeh, Javan Khalil, Smith Richard J H
Abstract excerpt
Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for approximately 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 encodes the gap junction protein connexin 26 (Cx26). This study investigates the contribution of GJB2 to...
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