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

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...

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Detalles Bibliográficos
Autores principales: Dallol, Ashraf, Banni, Huda, Gari, Mamdooh A, Al-Qahtani, Mohammed H, Abuzenadeh, Adel M, Al-Sayes, Fatin, Chaudhary, Adeel G, Bidwell, Jeffrey, Kafienah, Wael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492101/
https://www.ncbi.nlm.nih.gov/pubmed/23006493
http://dx.doi.org/10.1186/1479-5876-10-199