Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
Chien
Yin-Hsiu
YH
National Taiwan University Hospital, Department of Medical Genetics, Taipei, Taiwan, ROC. chienyh@ntu.edu.tw
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D000519:alpha-Galactosidase / Q000235:genetics*
D003062:Codon; D000519:alpha-Galactosidase