Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
Rousseau
F
F
Saugier
P
P
Le Merrer
M
M
Munnich
A
A
Delezoide
A L
AL
Maroteaux
P
P
Bonaventure
J
J
Narcy
F
F
Sanak
M
M
D000595:Amino Acid Sequence; D001483:Base Sequence; D018388:Codon, Terminator; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000235:genetics*
D018388:Codon, Terminator; D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3