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Article

Molecular characterization of G6PD mutations identifies new mutations and a high frequency of intronic variants in Thai females.

PloS one - 1 Jan 2023

Chamchoy Kamonwan, Sudsumrit Sirapapha, Wongwigkan Jutamas, Petmitr Songsak, Songdej Duantida, Adams Emily R, Edwards Thomas, Leartsakulpanich Ubolsree, Boonyuen Usa

Abstract excerpt

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzymopathy caused by mutations in the G6PD gene. A medical concern associated with G6PD deficiency is acute hemolytic anemia induced by certain foods, drugs, and infections. Although phenotypic tests can correctly identify hemizygous males, as well as homozygous and compound heterozygous females, heterozygous females with a wide range of G6PD...

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Identifiers

PMID: 37967096
DOI: 10.1371/journal.pone.0294200
PMCID: PMC10651042

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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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