(Q33822184)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6309910%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

title

Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis (English)

1 reference

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9 October 2019

1

1 reference

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9 October 2019

author name string

P Frossard

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6309910%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

R L Nussbaum

3

1 reference

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9 October 2019

C T Caskey

4

1 reference

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9 October 2019

W N Kelley

5

1 reference

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9 October 2019

language of work or name

English

0 references

publication date

1 September 1983

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6309910%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

9 October 2019

published in

1 reference

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9 October 2019

volume

72

1 reference

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9 October 2019

issue

3

1 reference

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9 October 2019

page(s)

767-772

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6309910%20AND%20SRC:MED&resulttype=core&format=json

Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme

9 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129241

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129241

A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129241

Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129241

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129241

Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129241

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129241

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129241

Detection of specific sequences among DNA fragments separated by gel electrophoresis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129241

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129241

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129241

Three mutant insulins in man

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129241

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

29 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Purification and characterization of mutant forms of the enzyme

1 reference

12 December 2020

Human adenine phosphoribosyltransferase. Immunochemical quantitation and protein blot analysis of mutant forms of the enzyme

1 reference

12 December 2020

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI111047

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6309910%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6309910%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

PubMed publication ID

6309910

1 reference