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Hypoxanthine-guanine Phosphoribosyltransferase: Mosaicism in the Peripheral Erythrocytes of Heterozygote for a Normal and a Mutant Enzyme

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Journal Biochem Genet
Specialty Molecular Biology
Date 1976 Aug 1
PMID 985381
Citations 3
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Citing Articles

Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme.

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Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.

Wilson J, Frossard P, Nussbaum R, Caskey C, Kelley W J Clin Invest. 1983; 72(3):767-72.

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[Properties of hypoxanthineguanine-phosphoribosyltransferase (HGPRTase) in a gout patient with partial deficiency of this enzyme (author's transl)].

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BAKAY B, Nyhan W, Fawcett N, Kogut M . Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme. Biochem Genet. 1972; 7(1):73-85. DOI: 10.1007/BF00487011. View

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BAKAY B, Nyhan W . Heterogeneity of hypoxanthine guanine phosphoribosyl transferase from human erythrocytes. Arch Biochem Biophys. 1975; 168(1):26-34. DOI: 10.1016/0003-9861(75)90224-6. View

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McDonald J, Kelley W . Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase. Biochem Genet. 1972; 6(1):21-6. DOI: 10.1007/BF00485961. View