title: p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.
authors.affiliation: Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
authors.forename: Pramuk
authors.initials: P
authors.lastname: Amarinthnukrowh
authors.forename: Siraprapa
authors.initials: S
authors.lastname: Tongkobpetch
authors.forename: Apichai
authors.initials: A
authors.lastname: Kongpatanayothin
authors.forename: Kanya
authors.initials: K
authors.lastname: Suphapeetiporn
authors.forename: Vorasuk
authors.initials: V
authors.lastname: Shotelersuk
mesh_terms: D019943:Amino Acid Substitution; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D000520:alpha-Glucosidases / Q000235:genetics*
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases