title: The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks.
authors: Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
authors: M M
authors: MM
authors: Hermans
authors: L P
authors: LP
authors: Svetkey
authors: B A
authors: BA
authors: Oostra
authors: Y T
authors: YT
authors: Chen
authors: A J
authors: AJ
authors: Reuser
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D044383:Black People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005087:Glucan 1,4-alpha-Glucosidase / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000235:genetics; D006031:Glycosylation; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D011110:Polymorphism, Genetic; D000520:alpha-Glucosidases
chemical_list: D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase