Article
Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population.
Human mutation - 1 Jun 2001
Gabriel H, Kupsch P, Sudendey J, Winterhager E, Jahnke K, Lautermann J
Abstract excerpt
Congenital sensorineural hearing loss affects approximately 1/1,000 live births. Mutations in the gene encoding connexin26 (GJB2) have been described as a major cause of genetic nonsyndromic hearing impairment. Additionally, another gap junction gene, connexin30 (GJB6), was found to be responsible for hereditary hearing loss. We have studied 134 patients with severe to profound hearing loss or deafness and 13...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
