Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.

Biochemical genetics ·Vol. 7 ·No. 1 ·1972-08-00 ·Pages 73-85

Bakay B, Nyhan WL, Fawcett N, Kogut MD

Abstract

暂无摘要

MeSH Terms

Adenine/metabolism Blood Protein Electrophoresis Carbon Isotopes Electrophoresis, Disc Erythrocytes/enzymology Female Genetic Linkage Guanine Heterozygote Hot Temperature Humans Hypoxanthines/metabolism Isoenzymes/blood Kinetics Lesch-Nyhan Syndrome/enzymology Male Metabolism, Inborn Errors/enzymology,genetics Methods Pentosyltransferases/blood Sex Chromosomes Time Factors

Chemicals

Carbon Isotopes Hypoxanthines Isoenzymes Guanine Pentosyltransferases Adenine

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Bakay B

Nyhan W L

Fawcett N

Kogut M D

References (18)

18 references, click to expand

Genetic analysis of mutants producing defective beta-galactosidase which can be activated by specific antibodie.
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Detection of radioactive components in polyacrylamide gel disc electropherograms by automated mechanical fractionation.
Anal Biochem. 1971 Apr;40(2):429-39 PMID: 4927979
Human hypoxanthine phosphoribosyltransferase. II. Kinetics and chemical modification.
J Biol Chem. 1969 Mar 10;244(5):1271-7 PMID: 4304190
Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.
Science. 1971 Feb 19;171(3972):689-91 PMID: 4322125
Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase.
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Inheritance of purine phosphoribosyltransferases in man.
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Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome.
Biochem Genet. 1972 Apr;6(2):139-46 PMID: 4354248
Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells.
Proc Natl Acad Sci U S A. 1968 Jun;60(2):545-52 PMID: 5248811
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
Science. 1968 Apr 26;160(3826):425-7 PMID: 4868511
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.
Am J Med. 1964 Apr;36:561-70 PMID: 14142409
Diagnostic test for congenital hyperuricemia with central nervous system dysfunction.
J Lab Clin Med. 1968 Feb;71(2):247-53 PMID: 5638128
Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Science. 1969 Dec 19;166(3912):1533-5 PMID: 17695080
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
Ann Intern Med. 1969 Jan;70(1):155-206 PMID: 4884382
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.
Science. 1967 Mar 31;155(3770):1682-4 PMID: 6020292
Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family.
Am J Med. 1970 Feb;48(2):148-61 PMID: 5416258
The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis.
Biochem Genet. 1971 Feb;5(1):81-90 PMID: 5582066
Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.
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Article Info

Journal

Biochemical genetics

Abbr.

Biochem Genet

ISSN

0006-2928

DOI

10.1007/BF00487011

Published

1972-08-00

Pages

73-85

Language

English

Region

United States

NLM ID

0126611

Subset

External Links

PubMed source DOI: 10.1007/BF00487011 View journal details

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Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.

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