Phenotypic variation in red cell G-6PD deficiency in heterozygotes.
Erythrocyte G-6PD activity in 69 heterozygotes has a log-normal distribution, a fact which cannot be solely attributed to random X chromosome inactivation. Others factors - genetic and individual - are suggested by intrafamilial clusting and post-natal variability of phenotype.
D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype