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  • Title: Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.
    Author: Nyhan WL, Bakay B, Connor JD, Marks JF, Keele DK.
    Journal: Proc Natl Acad Sci U S A; 1970 Jan; 65(1):214-8. PubMed ID: 5263751.
    Abstract:
    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 confirmed in one by assay of skin fibroblasts. Erythrocytes were exclusively of type B. These observations suggest the clonal origin of the hematopoietic system in these women from a primordial cell line with a single active X chromosome.
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