Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9).
Collin
Rob W J
RW
Pauw
Robert J
RJ
Schoots
Jeroen
J
Huygen
Patrick L M
PL
Hoefsloot
Lies H
LH
Cremers
Cor W R J
CW
Kremer
Hannie
H
D000595:Amino Acid Sequence; D001299:Audiometry; D017124:Conserved Sequence; D016326:Extracellular Matrix Proteins; D005260:Female; D005799:Genes, Dominant; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011487:Protein Conformation; D021382:Protein Sorting Signals; D017433:Protein Structure, Secondary; D017434:Protein Structure, Tertiary; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
C110668:COCH protein, human; D016326:Extracellular Matrix Proteins; D021382:Protein Sorting Signals; D011506:Proteins