Hypoxanthine-guanine phosphoribosyltransferase: Mosaicism in the peripheral erythrocytes of a heterozygote for a normal and a mutant enzyme
- 1 August 1976
- journal article
- research article
- Published by Springer Nature in Biochemical Genetics
- Vol. 14 (7-8) , 587-593
- https://doi.org/10.1007/bf00485837
Abstract
No abstract availableThis publication has 29 references indexed in Scilit:
- Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.Journal of Clinical Investigation, 1975
- Studies on hair roots for carrier detection in hypoxanthine‐guanine phosphoribosyl transferase deficiencyClinical Genetics, 1974
- Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysatesThe Journal of Pediatrics, 1973
- Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzymeBiochemical Genetics, 1972
- Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair FolliclesScience, 1971
- Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: A study of a familyThe American Journal of Medicine, 1970
- Purine Metabolism in Heterozygous Carriers of Hypoxanthine-Guanine Phosphoribosyltransferase DeficiencyScience, 1969
- LYON HYPOTHESIS AND X-LINKED DISEASEThe Lancet, 1967
- Isoelectric Fractionation, Analysis, and Characterization of Ampholytes in Natural pH Gradients. IV. Further Studies on the Resolving Power in Connection with Separation of Myoglobins.Acta Chemica Scandinavica, 1966
- A familial disorder of uric acid metabolism and central nervous system functionThe American Journal of Medicine, 1964