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- W4233654614 abstract "Indirect MeasurementsA number of hereditary conditions in which the heterozygote can only be detected by means of indirect measurements deserve consideration. In von Gierke's disease it has not been possible to demonstrate a deficiency of glucose-6-phosphatase directly, since this would involve performance of a liver biopsy on a perfectly healthy parent. However, it has been possible to identify a carrier of this abnormal gene by measuring the glucose-6-phosphate (G-6-P) and fructose-6-phosphate (F-6-P) content of the red cells after separation on a Dowex-1 column.146 It was found that the mean G-6-P was 0.18 ± 0.12 (range, 0.05–0.37) gm. per 100 . . ." @default.
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- W4233654614 title "Medical Genetics" @default.
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- W4233654614 doi "https://doi.org/10.1056/nejm196006302622606" @default.
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