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Article

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

Human mutation - 1 Jan 2015

Bergsma Atze J, Kroos Marian, Hoogeveen-Westerveld Marianne, Halley Dicky, van der Ploeg Ans T, Pijnappel W W

Abstract excerpt

Identification of pathogenic variants in monogenic diseases is an important aspect of diagnosis, genetic counseling, and prediction of disease severity. Pathogenic mechanisms involved include changes in gene expression, RNA processing, and protein translation. Variants affecting pre-mRNA splicing...

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Identifiers

PMID: 25243733
DOI: 10.1002/humu.22705

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25243733-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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