Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia.
Zhang
Shi-rong
SR
Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China.
Zhou
Xiao-qing
XQ
Ren
Xiang
X
Wang
Tian-tian
TT
Yuan
Ming-xiong
MX
Wang
Qing
Q
Liu
Jing-yu
JY
Liu
Mu-gen
MG
D000130:Achondroplasia / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000737:chemistry / Q000235:genetics* / Q000502:physiology
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3