title: Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2.
authors.affiliation: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC. dmniu@vghtpe.gov.tw
authors.forename: Dau-Ming
authors.initials: DM
authors.lastname: Niu
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.forename: Tina Jui-Ting
authors.initials: TJ
authors.lastname: Wu
authors.forename: Ju-Hui
authors.initials: JH
authors.lastname: Hsu
authors.forename: Hsiao-Chi
authors.initials: HC
authors.lastname: Yu
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Chih-Kuang
authors.initials: CK
authors.lastname: Chuang
authors.forename: Cheng-Hung
authors.initials: CH
authors.lastname: Huang
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000201:enzymology; D020125:Mutation, Missense; D000520:alpha-Glucosidases / Q000097:blood / Q000172:deficiency / Q000235:genetics*
chemical_list: D003062:Codon; C509951:GAA protein, human; D000520:alpha-Glucosidases