The Trp117Arg mutation of the COCH gene causes deafness in Koreans.
Baek
J-I
JI
Cho
H-J
HJ
Choi
S-J
SJ
Kim
L-S
LS
Zhao
C
C
Sagong
B R
BR
Kim
U-K
UK
Jeong
S-W
SW
D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins; D005190:Family; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D056910:Republic of Korea; D014364:Tryptophan / Q000235:genetics
C110668:COCH protein, human; D016326:Extracellular Matrix Proteins; D011506:Proteins; D014364:Tryptophan; D001120:Arginine