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

Genomics. 1993 Apr;16(1):300-1. doi: 10.1006/geno.1993.1185.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Black People / genetics*
  • DNA Mutational Analysis
  • Glucan 1,4-alpha-Glucosidase / chemistry
  • Glucan 1,4-alpha-Glucosidase / deficiency
  • Glucan 1,4-alpha-Glucosidase / genetics*
  • Glycogen Storage Disease Type II / enzymology
  • Glycogen Storage Disease Type II / genetics
  • Glycosylation
  • Humans
  • Lysosomes / enzymology
  • Polymorphism, Genetic
  • alpha-Glucosidases

Substances

  • alpha-Glucosidases
  • Glucan 1,4-alpha-Glucosidase