title: Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
authors.affiliation: Pediatrics, Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College, Sec. 2, Chung-Shan North Road, 92, 10449, Taipei, Taiwan ROC.
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.forename: Kah-Wai
authors.initials: KW
authors.lastname: Chong
authors.forename: Ju-Hui
authors.initials: JH
authors.lastname: Hsu
authors.forename: Hsiao-Chi
authors.initials: HC
authors.lastname: Yu
authors.forename: Cheng-Hung
authors.initials: CH
authors.lastname: Huang
authors.forename: Dau-Ming
authors.initials: DM
authors.lastname: Niu
mesh_terms: D003062:Codon / Q000235:genetics; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics*
chemical_list: D003062:Codon; D000519:alpha-Galactosidase