Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
Niu
Dau-Ming
DM
Department of Pediatrics, Taipei Veterans General Hospital, Sec. 2, Shih-Pai Road, No. 201, 112, Taipei, Taiwan ROC. dmniu@vghtpe.gov.tw
Lin
Hsiang-Yu
HY
Chong
Kah-Wai
KW
Hsu
Ju-Hui
JH
Yu
Hsiao-Chi
HC
Huang
Cheng-Hung
CH
D003062:Codon / Q000235:genetics; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics*
D003062:Codon; D000519:alpha-Galactosidase