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Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.
Glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) deficiency is a common genetic abnormality affecting an estimated 400 million people worldwide. Clinical and biochemical analyses have identified many variants exhibiting a range of phenotypes, which have been well characterized from the hematolo...
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| Главные авторы: | , , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
1988
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC281710/ https://ncbi.nlm.nih.gov/pubmed/3393536 |
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