title: Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
authors.affiliation: National Taiwan University Hospital, Department of Medical Genetics, Taipei, Taiwan, ROC. chienyh@ntu.edu.tw
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017384:Sequence Deletion; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D003062:Codon; D000519:alpha-Galactosidase