A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.
Wang
Binbin
B
Shandong Eye Institute, Qingdao University Eye College, China.
Yu
Changhong
C
Xi
Yi-Bo
YB
Cai
Hong-Chen
HC
Wang
Jing
J
Zhou
Sirui
S
Zhou
Shiyi
S
Wu
Yi
Y
Yan
Yong-Bin
YB
Ma
Xu
X
Xie
Lixin
L
D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011487:Protein Conformation; D055550:Protein Stability; D038222:gamma-Crystallins / Q000235:genetics* / Q000378:metabolism*
C504903:CRYGD protein, human; D038222:gamma-Crystallins