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p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.

Genetic testing and molecular biomarkers - 1 Dec 2010

Amarinthnukrowh Pramuk, Tongkobpetch Siraprapa, Kongpatanayothin Apichai, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

AIM: to describe genetic features of five unrelated Thai families with infantile-onset Pompe disease caused by mutations in the acid α-glucosidase (GAA) gene. METHODS: total RNA and genomic DNA were extracted from peripheral blood leukocytes, and mutation analysis of the entire coding regions of the GAA gene was performed in our first patient. Polymerase chain reaction-restriction fragment length polymorphism...

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Source

Identifiers

PMID: 21039225
DOI: 10.1089/gtmb.2010.0038

Genes

GAA

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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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