title: Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
authors: Département de Génétique, Hôpital Européen Georges Pompidou, Paris, France. dominique.germain@hop.egp.ap-hop-paris.fr
authors: D P
authors: DP
authors: Germain
authors: D
authors: D
authors: Salard
authors: F
authors: F
authors: Fellmann
authors: K
authors: K
authors: Azibi
authors: C
authors: C
authors: Caillaud
authors: M C
authors: MC
authors: Bernard
authors: L
authors: L
authors: Poenaru
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D044465:White People / Q000235:genetics; D014960:X Chromosome / Q000235:genetics; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase