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Article

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.

Biochemical and biophysical research communications - 16 Sept 1991

Hermans M M, de Graaff E, Kroos M A, Wisselaar H A, Oostra B A, Reuser A J

Abstract excerpt

Two patients in a consanguineous Indian family with infantile glycogenosis type II were found to have a G to A transition in exon 11 of the human lysosomal alpha-glucosidase gene. Both patients were homozygous and both parents were heterozygous for the mutant allele. The mutation causes a Glu to Lys substitution at amino acid position 521, just three amino acids downstream from the catalytic site at Asp-518. The...

Topics

Alleles
Animals
Base Sequence
Cell Line
DNA
Electrophoresis, Polyacrylamide Gel
Exons
Gene Expression
Glycogen Storage Disease Type II
Humans
Lysosomes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Transfection

alpha-Glucosidases

Source

Identifiers

PMID: 1898413
DOI: 10.1016/0006-291x(91)91906-s

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1898413-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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