Inheritance of purine phosphoribosyltransferases in man.

American journal of human genetics ·Vol. 21 ·No. 1 ·1969-01-00 ·Pages 61-70

Henderson JF, Kelley WN, Rosenbloom FM, Seegmiller JE

Abstract

暂无摘要

MeSH Terms

Chromosomes Erythrocytes/enzymology Female Humans Male Metabolism, Inborn Errors/genetics Mutation Pedigree Sex Chromosomes Transferases/metabolism

Chemicals

Transferases

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Henderson J F

Kelley W N

Rosenbloom F M

Seegmiller J E

References (10)

10 references, click to expand

Detection of glucose-6-phosphate dehydrogenase deficient heterozygotes.
Blood. 1967 Jan;29(1):87-101 PMID: 6017611
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.
Science. 1967 Mar 31;155(3770):1682-4 PMID: 6020292
A specific enzyme defect in gout associated with overproduction of uric acid.
Proc Natl Acad Sci U S A. 1967 Jun;57(6):1735-9 PMID: 4291947
X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia.
Proc Soc Exp Biol Med. 1966 Jun;122(2):609-11 PMID: 5980574
Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects.
JAMA. 1967 Oct 16;202(3):175-7 PMID: 6072350
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
Science. 1968 Apr 26;160(3826):425-7 PMID: 4868511
Kinetic studies of mutant human erythrocyte adenine phosphoribosyltransferases.
Can J Biochem. 1968 Jul;46(7):703-6 PMID: 5665447
Gene action in the X-chromosome of the mouse (Mus musculus L.).
Nature. 1961 Apr 22;190:372-3 PMID: 13764598
GENETIC TESTS WITH A SEX-LINKED MARKER: GLUCOSE-6-PHOSPHATE DEHYDROGENASE.
Cold Spring Harb Symp Quant Biol. 1964;29:415-25 PMID: 14278486
HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.
N Engl J Med. 1965 Jul 15;273:130-5 PMID: 14303658

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1969-01-00

Pages

61-70

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1706393

Subset

External Links

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