title: Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia.
authors.affiliation: Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China.
authors.forename: Shi-rong
authors.initials: SR
authors.lastname: Zhang
authors.forename: Xiao-qing
authors.initials: XQ
authors.lastname: Zhou
authors.forename: Xiang
authors.initials: X
authors.lastname: Ren
authors.forename: Tian-tian
authors.initials: TT
authors.lastname: Wang
authors.forename: Ming-xiong
authors.initials: MX
authors.lastname: Yuan
authors.forename: Qing
authors.initials: Q
authors.lastname: Wang
authors.forename: Jing-yu
authors.initials: JY
authors.lastname: Liu
authors.forename: Mu-gen
authors.initials: MG
authors.lastname: Liu
mesh_terms: 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
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3