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1
Inheritance of purine phosphoribosyltransferases in man.
Am J Hum Genet. 1969 Jan;21(1):61-70.
2
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase associated with gout and uric acid lithiasis.
Rev Eur Etud Clin Biol. 1970 Nov;15(9):942-7.
3
X-chromosome inactivation and the Xg locus.
Am J Hum Genet. 1970 Jul;22(4):460-3.
4
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.
Biochem Genet. 1970 Jun;4(3):377-83. doi: 10.1007/BF00485754.
5
Adenine phosphoribosyltransferase deficiency in man. Report of a second family.
Am J Med. 1973 Nov;55(5):614-20. doi: 10.1016/0002-9343(73)90183-6.
6
Seminars on Lesch-Nyhan syndrome. Discussion of epidemiology and genetic implications.
Fed Proc. 1968 Jul-Aug;27(4):1091-6.
7
Inheritance of hypoxanthine-guanine phosphoribosyltransferase deficiency and detection of heterozygotes.
Fed Proc. 1968 Jul-Aug;27(4):1085-6.
8
Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.
Fed Proc. 1968 Jul-Aug;27(4):1047-52.
9
Phosphoribosyltransferase (PRT) and adenine PRT (A-PRT) deficiency states in man--new inborn errors of purine metabolism.
Ann Intern Med. 1969 Jan;70(1):229-30. doi: 10.7326/0003-4819-70-1-229.
10
Tetrahydrofolate-dependent enzyme activities of erythrocytes in formiminotransferase deficiency syndrome.
Tohoku J Exp Med. 1966 Apr 25;88(4):305-10. doi: 10.1620/tjem.88.305.
引用本文的文献
1
Comparison between various strategies for the disease-gene mapping using linkage disequilibrium analyses: studies on adenine phosphoribosyltransferase deficiency used as an example.
J Hum Genet. 2004;49(9):463-473. doi: 10.1007/s10038-004-0175-y. Epub 2004 Jul 28.
2
Somatic cell gene mutations in humans: biomarkers for genotoxicity.
Environ Health Perspect. 1993 Oct;101 Suppl 3(Suppl 3):193-201. doi: 10.1289/ehp.93101s3193.
3
X-chromosome inactivation and the Xg locus.
Am J Hum Genet. 1970 Jul;22(4):460-3.
4
Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.
Am J Hum Genet. 1970 Jan;22(1):50-4.
5
Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures.
Proc Natl Acad Sci U S A. 1971 Jul;68(7):1516-9. doi: 10.1073/pnas.68.7.1516.
6
[Lesch-Nyhan syndrome. Heterozygote detection by biochemical selection of the mutant cells and autoradiography].
Humangenetik. 1972;15(2):126-35. doi: 10.1007/BF00295739.
7
Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.
Biochem Genet. 1972 Aug;7(1):73-85. doi: 10.1007/BF00487011.
8
Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.
Biochem Genet. 1974 May;11(5):397-411. doi: 10.1007/BF00486413.
9
A new HGPRT-deficient phenotype?
J Med Genet. 1972 Dec;9(4):482-4. doi: 10.1136/jmg.9.4.482.
10
8-Azaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase.
Genetics. 1972 Oct;72(2):239-52. doi: 10.1093/genetics/72.2.239.
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HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.
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GENETIC TESTS WITH A SEX-LINKED MARKER: GLUCOSE-6-PHOSPHATE DEHYDROGENASE.
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Gene action in the X-chromosome of the mouse (Mus musculus L.).
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Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects.
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Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.
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Detection of glucose-6-phosphate dehydrogenase deficient heterozygotes.
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X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia.
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Kinetic studies of mutant human erythrocyte adenine phosphoribosyltransferases.
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X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
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A specific enzyme defect in gout associated with overproduction of uric acid.
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