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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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| Publicado en: | Proc Natl Acad Sci U S A |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
National Academy of Sciences
1970
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC286212/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/5263751/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.65.1.214 |
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