p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.
Amarinthnukrowh
Pramuk
P
Center of Excellence for Medical Genetics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Tongkobpetch
Siraprapa
S
Kongpatanayothin
Apichai
A
Suphapeetiporn
Kanya
K
Shotelersuk
Vorasuk
V
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*
C509951:GAA protein, human; D000520:alpha-Glucosidases