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Article

Novel GAA mutations in patients with Pompe disease.

Gene - 25 Apr 2015

Turaça Lauro Thiago, de Faria Douglas Oliveira Soares, Kyosen Sandra Obikawa, Teixeira Valber Dias, Motta Fabiana Louise, Pessoa Juliana Gilbert, Rodrigues E Silva Marina, de Almeida Sandro Soares, D'Almeida Vânia, Munoz Rojas Maria Verônica, Martins Ana Maria, Pesquero João Bosco

Abstract excerpt

Pompe disease is an autosomal recessive disorder linked to GAA gene that leads to a multi-system intralysosomal accumulation of glycogen. Mutation identification in the GAA gene can be very important for early diagnosis, correlation between genotype-phenotype and therapeutic intervention. For this purpose, peripheral blood from 57 individuals susceptible to Pompe disease was collected and all exons of GAA gene...

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Source

Identifiers

PMID: 25681614
DOI: 10.1016/j.gene.2015.02.023

Genes

GAA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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