title: Novel G144D mutation of the GLA gene in a Chinese patient with Fabry disease.
authors.affiliation: Institute of Dermatology and Department of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China; State Key Laboratory of Dermatology, Ministry of Science and Technology, Hefei, Anhui, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Li
authors.forename: Fu-Sheng
authors.initials: FS
authors.lastname: Zhou
authors.forename: Zai-Xing
authors.initials: ZX
authors.lastname: Wang
authors.forename: Hong-Yang
authors.initials: HY
authors.lastname: Fu
authors.forename: Da
authors.initials: D
authors.lastname: Lin
authors.forename: Song-Ke
authors.initials: SK
authors.lastname: Shen
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: C576330:GLA protein, human; D000519:alpha-Galactosidase