A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.

Source:http://linkedlifedata.com/resource/pubmed/id/16261627

Am. J. Med. Genet. A 2005 Dec 1 139A 2 86-95

Download in:

View as

General Info

PMID
16261627