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Hemizygous Expression of Glucose-6-Phosphate Dehydrogenase in Erythrocytes of Heterozygotes for the Lesch-Nyhan Syndrome

In women heterozygous for hypoxanthine guanine phosphoribosyl trasferase deficiency, the activity of this enzyme in the erythrocyte is usually normal. In a key kindred two such obligate heterozygotes were also heterozygous for glucose-6-phosphate dehydrogenase types A and B. The AB genotype was conf...

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Autori principali: Nyhan, William L., Bakay, Bohdan, Connor, James D., Marks, James F., Keele, Doman K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1970
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC286212/
https://ncbi.nlm.nih.gov/pubmed/5263751
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