Article
Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.
American journal of human genetics - 1 Oct 1996
Filosa S, Giacometti N, Wangwei C, De Mattia D, Pagnini D, Alfinito F, Schettini F, Luzzatto L, Martini G
Abstract excerpt
X-chromosome inactivation in mammals is regarded as an essentially random process, but the resulting somatic-cell mosaicism creates the opportunity for cell selection. In most people with red-blood-cell glucose-6-phosphate dehydrogenase (G6PD) deficiency, the enzyme-deficient phenotype is only mo...
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