[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)].
Rousseau
F
F
INSERM U 393, Hôpital des Enfants Malades, Paris.
Bonaventure
J
J
Le Merrer
M
M
Munnich
A
A
D000130:Achondroplasia / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
D008565:Membrane Proteins; D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3
Association de l'achondroplasie à une mutation dans le domaine transmembranaire du récepteur 3 des facteurs de croissance fibroblastiques (FGFR3).