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Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.
Proc Natl Acad Sci U S A. 1988 Jul;85(14):5171-5. doi: 10.1073/pnas.85.14.5171.
Proc Natl Acad Sci U S A. 1988.
PMID: 3393536
Free PMC article.
Two point mutations are responsible for G6PD polymorphism in Sardinia.
De Vita G, Alcalay M, Sampietro M, Cappelini MD, Fiorelli G, Toniolo D.
De Vita G, et al.
Am J Hum Genet. 1989 Feb;44(2):233-40.
Am J Hum Genet. 1989.
PMID: 2912069
Free PMC article.
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