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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Hlavní autoři: Vulliamy, T J, D'Urso, M, Battistuzzi, G, Estrada, M, Foulkes, N S, Martini, G, Calabro, V, Poggi, V, Giordano, R, Town, M
Médium: Artigo
Jazyk:Inglês
Vydáno: 1988
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC281710/
https://ncbi.nlm.nih.gov/pubmed/3393536
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