title: Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity.
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
authors.forename: J Y
authors.initials: JY
authors.lastname: Wu
authors.forename: C H
authors.initials: CH
authors.lastname: Tsai
authors.forename: J G
authors.initials: JG
authors.lastname: Chang
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D018740:Genetic Heterogeneity; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D013624:Taiwan
chemical_list: D017931:DNA Primers; D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3