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- W2022149673 abstract "WE usually diagnose genetic disorders, not by detecting abnormal genes, but by detecting the results of the abnormal genes' actions. Sickle-cell anemia, for example, is diagnosed by demonstrating aberrant properties of β-globin caused by the substitution of valine for glutamic acid at position 6 in the β-globin molecule. Since β-globin is made only in red-cell precursors, prenatal diagnosis of sickle-cell anemia by assaying the abnormal protein requires the demanding and potentially hazardous technique of fetoscopy or of placental aspirations. Whereas only fetal red-cell precursors make β-globin, all fetal cells — including easily accessible amniotic-fluid cells — contain β-globin genes. Thus, . . ." @default.
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- W2022149673 date "1982-07-01" @default.
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- W2022149673 title "Looking at Genes" @default.
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- W2022149673 doi "https://doi.org/10.1056/nejm198207013070109" @default.
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