A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms.
Houseman
M J
MJ
Jackson
A P
AP
Al-Gazali
L I
LI
Badin
R A
RA
Roberts
E
E
Mueller
R F
RF
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
D008565:Membrane Proteins; C118457:OTOF protein, human; D020033:Protein Isoforms; D004247:DNA