Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
Germain
D P
DP
Département de Génétique, Hôpital Européen Georges Pompidou, Paris, France. dominique.germain@hop.egp.ap-hop-paris.fr
Salard
D
D
Fellmann
F
F
Azibi
K
K
Caillaud
C
C
Bernard
M C
MC
Poenaru
L
L
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*
D000519:alpha-Galactosidase