Article
Connexin 26 35delG does not represent a mutational hotspot.
Human genetics - 1 Jul 2003
Rothrock Caryn R, Murgia Alessandra, Sartorato Edi L, Leonardi Emanuela, Wei Sainan, Lebeis Sarah L, Yu Laura E, Elfenbein Jill L, Fisher Rachel A, Friderici Karen H
Abstract excerpt
Non-syndromic hearing impairment (NSHI) is the most common form of deafness and presents with no other symptoms or sensory defects. Mutations in the gap junction gene GJB2 account for a high proportion of recessive NSHI. The GJB2 gene encodes connexin 26, which forms plasma membrane channels between cochlear cells. In Caucasian populations a single mutation, 35delG, accounts for most cases of NSHI. This mutation...
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