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Article

Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity.

Journal of translational medicine - 24 Sept 2012

Dallol Ashraf, Banni Huda, Gari Mamdooh A, Al-Qahtani Mohammed H, Abuzenadeh Adel M, Al-Sayes Fatin, Chaudhary Adeel G, Bidwell Jeffrey, Kafienah Wael

Abstract excerpt

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD, EC 1.1.1.49) deficiency is caused by one or more mutations in the G6PD gene on chromosome X. An association between enzyme levels and gene haplotypes remains to be established. METHODS: In this study, we determined G6PD enzyme levels and sequenced the coding region, including the intron-exon boundaries, in a group of individuals (163 males and 86 females) who...

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Identifiers

PMID: 23006493
DOI: 10.1186/1479-5876-10-199
PMCID: PMC3492101

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Source receipt: pubmed, retrieved 7 Sept 2026.

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