Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity.
Tsai
F J
FJ
Wu
J Y
JY
Tsai
C H
CH
Chang
J G
JG
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
D017931:DNA Primers; D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3