title: Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
authors.affiliation: Department of Biological Chemistry, University of California, Irvine 92717, USA.
authors.forename: P L
authors.initials: PL
authors.lastname: Tavormina
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: D H
authors.initials: DH
authors.lastname: Cohn
authors.forename: Y Z
authors.initials: YZ
authors.lastname: Zhu
authors.forename: R
authors.initials: R
authors.lastname: Shiang
authors.forename: J J
authors.initials: JJ
authors.lastname: Wasmuth
mesh_terms: D000595:Amino Acid Sequence; D001482:Base Composition; D001483:Base Sequence; D001665:Binding Sites; D003545:Cysteine / Q000235:genetics; D004247:DNA; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000235:genetics*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D004247:DNA; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D003545:Cysteine