(Q81425519)
Statements
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 (English)
Valerie A Street
Jeremy C Kallman
Nahid G Robertson
Sharon F Kuo
Cynthia C Morton