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Article

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

American journal of human genetics - 1 Apr 1995

Boerkoel C F, Exelbert R, Nicastri C, Nichols R C, Miller F W, Plotz P H, Raben N

Abstract excerpt

An autosomal recessive deficiency of acid alpha-glucosidase (GAA), type II glycogenosis, is genetically and clinically heterogeneous. The discovery of an enzyme-inactivating genomic deletion of exon 18 in three unrelated genetic compound patients--two infants and an adult--provided a rare opportunity to analyze the effect of the second mutation in patients who displayed dramatically different phenotypes. A...

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Identifiers

PMID: 7717400
PMCID: PMC1801206

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.PMID 7717400Read ↗

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

Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.Semantic proximity Read ↗

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).Semantic proximity Read ↗

Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.Semantic proximity Read ↗

Genetic defects in patients with glycogenosis type II (acid maltase deficiency).Semantic proximity Read ↗

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.Semantic proximity Read ↗

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.Semantic proximity Read ↗

Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.Semantic proximity Read ↗

Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT).Semantic proximity Read ↗

The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.Semantic proximity Read ↗

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).Semantic proximity Read ↗

A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II)Semantic proximity Read ↗

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