title: Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia.
authors.affiliation: Department of Biochemistry, College of Medicine, Sultan Qaboos University, Muscat, Oman. mssimsek@omantel.net.om
authors.forename: Mehmet
authors.initials: M
authors.lastname: Simsek
authors.forename: Lihadh
authors.initials: L
authors.lastname: Al-Gazali
authors.forename: Reyhanah
authors.initials: R
authors.lastname: Al-Mjeni
authors.forename: Riad
authors.initials: R
authors.lastname: Bayoumi
mesh_terms: D019943:Amino Acid Substitution; D005346:Fibroblast Growth Factors / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D005346:Fibroblast Growth Factors; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3