Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia.
Simsek
Mehmet
M
Department of Biochemistry, College of Medicine, Sultan Qaboos University, Muscat, Oman. mssimsek@omantel.net.om
Al-Gazali
Lihadh
L
Al-Mjeni
Reyhanah
R
Bayoumi
Riad
R
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*
D017468:Receptors, Fibroblast Growth Factor; D005346:Fibroblast Growth Factors; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3