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Case Reports
. 1976 Jul;28(4):332-8.

X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase

F C Ricciuti, T D Gelehrter, L E Rosenberg
Case Reports

X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase

F C Ricciuti et al. Am J Hum Genet. 1976 Jul.

Abstract

Histochemical assay for ornithine transcarbamylase (OTC) activity in fixed frozen hepatic sections from a woman heterozygous for OTC deficiency revealed two populations of hepatocytes: those with normal activity and those with no activity. This observation, in conjunction with data from previous family studies, confirms the hypothesis that the gene for OTC is X-linked. It also provides the first cytologic demonstration of cellular mosaicism for a liver-specific cell product.

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References

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