(Q24678199)

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Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2502918%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2502918%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

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Kamatani N

1

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30 September 2019

Kuroshima S

2

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30 September 2019

Terai C

3

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30 September 2019

Hidaka Y

4

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30 September 2019

Palella TD

5

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30 September 2019

Nishioka K

6

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30 September 2019

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1 August 1989

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30 September 2019

American Journal of Human Genetics

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30 September 2019

45

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30 September 2019

2

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30 September 2019

325-331

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30 September 2019

describes a project that uses

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Nucleotide sequence of the human APRT gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

7 April 2017

Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

7 April 2017

Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

7 April 2017

Human adenine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

7 April 2017

Antibodies specific for the carboxy- and amino-terminal regions of simian virus 40 large tumor antigen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

28 September 2017

Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: Identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

28 September 2017

Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

28 September 2017

Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

28 September 2017

Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

30 May 2018

Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants). Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

30 May 2018

Nucleotide sequence and deduced amino acid sequence of Escherichia coli adenine phosphoribosyltransferase and comparison with other analogous enzymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

30 May 2018

Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

30 May 2018

Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

30 May 2018

Phosphoribosylpyrophosphate synthetase of Escherichia coli. Properties of the purified enzyme and primary structure of the prs gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

30 May 2018

Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683345

30 May 2018

Altered kinetic properties of a mutant adenine phosphoribosyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/2502918

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

EVIDENCE FOR NONIDENTICAL CHAINS IN THE BETA-GALACTOSIDASE OF ESCHERICHIA COLI K12

1 reference

https://pubmed.ncbi.nlm.nih.gov/2502918

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine]

1 reference

https://pubmed.ncbi.nlm.nih.gov/2502918

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete deficiency of adenine phosphoribosyltransferase. Report of a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/2502918

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2502918%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2502918%20AND%20SRC:MED&resulttype=core&format=json

30 September 2019

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