Functional and structural analysis of double and triple mutants reveals the contribution of protein instability to clinical manifestations of G6PD variants
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common polymorphism and enzymopathy in humans, affecting approximately 400 million people worldwide. Over 200 point mutations have been identified in g6pd and the molecular mechanisms underlying the severity of G6PD variants differ. We...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Elsevier
2020
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