Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.

doi:10.1089/dna.1991.10.681

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Article

Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.

DNA and cell biology - 1 Nov 1991

Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N, Hirschhorn R

Abstract excerpt

The lysosomal enzyme acid alpha glucosidase (GAA) or acid maltase is deficient in glycogen storage disease type II. We sought to determine the molecular basis for the disease in an adult-onset patient, unusual for very low enzyme activity similar to that seen with the infantile-onset form and with a previously reported defect in phosphorylation. We constructed cDNA and genomic DNA libraries from the patient's...

Topics

Alleles
Base Sequence
Blotting, Northern
Blotting, Southern
Cell Line
Codon
Gene Library
Glucan 1,4-alpha-Glucosidase
Glycogen Storage Disease Type II
Humans
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutagenesis

Mutation

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Transcription, Genetic

alpha-Glucosidases

Source

Open in PubMed

Identifiers

PMID: 1684505
DOI: 10.1089/dna.1991.10.681

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1684505-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.PMID 1684505Read ↗

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