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Article

A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II)

1 Jul 1996

Abstract excerpt

Glycogenosis type II is a recessively inherited disorder caused by mutations in the acid maltase (GAA) gene. Clinically, three different phenotypes are recognized: Infantile, juvenile and adult forms. A majority of compound heterozygous adult-onset patients carry a t-13g mutation in intron 1 associated with splicing out the first coding exon (exon 2). We have studied the mechanism of this mutation in a model...

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Identifiers

PMID: 8817337
DOI: 10.1093/hmg/5.7.995

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Source receipt: pubmed, retrieved 7 Sept 2026.

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