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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Academic Press
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4894296/ https://www.ncbi.nlm.nih.gov/pubmed/27053284 http://dx.doi.org/10.1016/j.ymgme.2016.03.008 |