A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. (Q34519085)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3944251%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

title

A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man (English)

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7 October 2019

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1

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7 October 2019

author name string

J T Stout

2

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7 October 2019

T D Palella

3

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7 October 2019

B L Davidson

4

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7 October 2019

W N Kelley

5

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7 October 2019

C T Caskey

6

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7 October 2019

publication date

1 January 1986

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Journal of Clinical Investigation

7 October 2019

language of work or name

English

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published in

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7 October 2019

volume

77

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7 October 2019

issue

1

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7 October 2019

page(s)

188-195

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

7 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=423326

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

7 July 2018

1 reference

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Deletion and amplification of the HGPRT locus in Chinese hamster cells

7 July 2018

1 reference

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Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome

7 July 2018

1 reference

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Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants

7 July 2018

1 reference

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Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26?qter

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

Organization of the HPRT gene and related sequences in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

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

7 July 2018

1 reference

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Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

Detection of specific sequences among DNA fragments separated by gel electrophoresis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

Properties of hypoxanthineguanine-phosphoribosyltransferase (HGPRTase) in a gout patient with partial deficiency of this enzyme (author's transl)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

Human hypoxanthine-guanine phosphoribosyltransferase. Evidence for tetrameric structure

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

A possible nucleotide-binding domain in the tertiary fold of phosphoribosyltransferases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423326

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

27 October 2018

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI112275

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3944251%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

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7 October 2019

PubMed publication ID

3944251

1 reference