title: A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms.
authors.forename: M J
authors.initials: MJ
authors.lastname: Houseman
authors.forename: A P
authors.initials: AP
authors.lastname: Jackson
authors.forename: L I
authors.initials: LI
authors.lastname: Al-Gazali
authors.forename: R A
authors.initials: RA
authors.lastname: Badin
authors.forename: E
authors.initials: E
authors.lastname: Roberts
authors.forename: R F
authors.initials: RF
authors.lastname: Mueller
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D020033:Protein Isoforms / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C118457:OTOF protein, human; D020033:Protein Isoforms; D004247:DNA