(Q44517890)

3 December 2017

Hypoxanthine-guanine phosphoribosyltransferase: mosaicism in the peripheral erythrocytes of heterozygote for a normal and a mutant enzyme (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A985381

12 August 2022

author name string

I. H. Fox

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A985381

12 August 2022

P. J. Marchant

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A985381

12 August 2022

S. LaCroix

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A985381

12 August 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=985381

12 August 2022

publication date

1 August 1976

1 reference

3 December 2017

1 reference

3 December 2017

14

1 reference

3 December 2017

587-593

1 reference

3 December 2017

7-8

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00485837

3 December 2017

0 references

cites work

The diagnosis of the carrier state for the Lesch--Nyhan syndrome

1 reference

12 December 2020

A specific enzyme defect in gout associated with overproduction of uric acid

1 reference

12 December 2020

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

1 reference

12 December 2020

Heterogeneity of hypoxanthine guanine phosphoribosyl transferase from human erythrocytes

1 reference

12 December 2020

Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.

1 reference

12 December 2020

Analysis of human hypoxanthine-guanine phosphoribosyl transferase isozymes by isoelectric focusing in polyacrylamide gel.

1 reference

12 December 2020

Rarity of X-Linked Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in a Large Gouty Population

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Purification and subunit structure

1 reference

12 December 2020

Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency

1 reference

12 December 2020

Isoelectric fractionation, analysis, and characterization of ampholytes in natural pH gradients. IV. Further studies on the resolving power in connection with separation of myoglobins

1 reference

12 December 2020

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

1 reference

12 December 2020

Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation

1 reference

12 December 2020

Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout

1 reference

12 December 2020

Detection of heterozygote in Lesch-Nyhan disease by hair-root analysis

1 reference

12 December 2020

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Detection of heterozygotes by selective medium

1 reference

12 December 2020

Protein measurement with the Folin phenol reagent

1 reference

12 December 2020

Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.

1 reference

12 December 2020

Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency

1 reference

12 December 2020

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

1 reference

12 December 2020

Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles

1 reference

12 December 2020

Microscale isoelectric focusing studies of mouse and human hypoxanthine-guanine phosphoribosyl transferases.

1 reference

12 December 2020

Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase

1 reference

12 December 2020

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase: studies on the normal and mutant forms of the enzyme

1 reference

12 December 2020

Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes

1 reference

12 December 2020

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00485837

1 reference

3 December 2017

1 reference