Detailed functional analysis of two clinical glucose-6-phosphate dehydrogenase (G6PD) variants, G6PD(Viangchan) and G6PD(Viangchan) (+) (Mahidol): Decreased stability and catalytic efficiency contribute to the clinical phenotype

Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is an X-linked hereditary genetic defect that is the most common polymorphism and enzymopathy in humans. To investigate functional properties of two clinical variants, G6PD(Viangchan) and G6PD(Viangchan) (+) (Mahidol), these two mutants were cre...

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Udgivet i:Mol Genet Metab
Main Authors: Boonyuen, Usa, Chamchoy, Kamonwan, Swangsri, Thitiluck, Saralamba, Naowarat, Day, Nicholas P.J., Imwong, Mallika
Format: Artigo
Sprog:Inglês
Udgivet: Academic Press 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4894296/
https://ncbi.nlm.nih.gov/pubmed/27053284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2016.03.008
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