A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease.
Wu
Kuan-Hsing
KH
Tzung
Tien-Yi
TY
Ro
Long-Sun
LS
Hsiao
Kwang-Jen
KJ
D000328:Adult; D044466:Asian People; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics*; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D013624:Taiwan; D000519:alpha-Galactosidase / Q000235:genetics*
D000519:alpha-Galactosidase