Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
Lin
Hsiang-Yu
HY
Department of Pediatrics, Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College, Sec. 2, Chung-Shan North Road, No.92, 10449, Taipei, Taiwan ROC.
Niu
Dau-Ming
DM
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