Article
Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.
Genetic testing - 1 Jan 2001
Pallares-Ruiz N, Blanchet P, Mondain M, Low-Hong S, Demaille J, Claustres M, Roux A F
Abstract excerpt
The GJB2 gene (or CX26 for connexin 26) is one of the major genes causing nonsyndromic sensorineural hearing loss (NSSNHL). More than 50 sequence variations have been identified as polymorphisms or associated with autosomal or recessive forms of deafness. Though a major mutation, 35delG, is easily detectable by PCR digest; it is often present in the compound heterozygous state in our population in trans with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.