Article
Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.
Human molecular genetics - 1 Apr 2006
Robertson Nahid G, Cremers Cor W R J, Huygen Patrick L M, Ikezono Tetsuo, Krastins Bryan, Kremer Hannie, Kuo Sharon F, Liberman M Charles, Merchant Saumil N, Miller Constance E, Nadol Joseph B, Sarracino David A, Verhagen Wim I M, Morton Cynthia C
Abstract excerpt
Seven missense mutations and one in-frame deletion mutation have been reported in the coagulation factor C homology (COCH) gene, causing the adult-onset, progressive sensorineural hearing loss and vestibular disorder at the DFNA9 locus. Prevalence of COCH mutations worldwide is unknown, as there is no systematic screening effort for late-onset hearing disorders; however, to date, COCH mutations have been found on...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.