Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.
Ploos van Amstel
J K
JK
DNA Laboratory, Clinical Genetics Center Utrecht, The Netherlands.
Jansen
R P
RP
de Jong
J G
JG
Hamel
B C
BC
Wevers
R A
RA
D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D000519:alpha-Galactosidase / Q000235:genetics*
D004247:DNA; D000519:alpha-Galactosidase