Abstract
The high concentrations of inosine triphosphate in human erythrocytes of some subjects has been related to a deficiency in intracellular inosine triphosphatase. Evidence has been presented for genetic transmission of this enzyme and for the existence of a homozygous-heterozygous relationship. Pedigree studies of individuals with erythrocyte ITPase deficiency suggest a Mendelian autosomal trait.
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This investigation was partly supported by PHS Research Grant No. Am-11116 from the National Institute of Arthritis and Metabolic Disorders.
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Vanderheiden, B.S. Genetic studies of human erythrocyte inosine triphosphatase. Biochem Genet 3, 289–297 (1969). https://doi.org/10.1007/BF00521144
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DOI: https://doi.org/10.1007/BF00521144