A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss.
Nagy
I
I
Institute of Enzymology, Biological Research Center, Hungarian Academy of Sciences, Budapest, Hungary.
Horváth
M
M
Trexler
M
M
Répássy
G
G
Patthy
L
L
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence / Q000235:genetics; D016326:Extracellular Matrix Proteins; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D008958:Models, Molecular; D008969:Molecular Sequence Data; D010455:Peptides / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D017510:Protein Folding; D017434:Protein Structure, Tertiary / Q000235:genetics; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D014633:Valine / Q000235:genetics*
C110668:COCH protein, human; D016326:Extracellular Matrix Proteins; D010455:Peptides; D011506:Proteins; D014633:Valine