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.
Hermans
M M
MM
Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
Svetkey
L P
LP
Oostra
B A
BA
Chen
Y T
YT
Reuser
A J
AJ
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
D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase