Article
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.
Human mutation - 1 May 2000
López-Bigas N, Rabionet R, Martínez E, Banchs I, Volpini V, Vance J M, Arbonés M L, Estivill X
Abstract excerpt
Connexin31 (GJB3) has been associated with hearing impairment and erythrokeratodermia variabilis. We have analyzed this gene in samples from patients with peripheral neuropathies, deafness and controls and have found several single nucleotide polymorphisms (SNPs). In the noncoding exon 1 of GJB3 two small deletions, 581del2 and 632del4 (GenBank accession number AF052692), were found at frequencies of 30% and 14%,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.