Late-onset GSDII with novel GAA gene mutation.
Angelini
C
C
Nascimbeni
A C
AC
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D012326:RNA Splicing / Q000235:genetics; D017384:Sequence Deletion; D000520:alpha-Glucosidases / Q000172:deficiency / Q000235:genetics*
D004247:DNA; C509951:GAA protein, human; D000520:alpha-Glucosidases