(Q40560392)

English

Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes

scientific article published on March 1991

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes (English)

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

adenine phosphoribosyltransferase deficiency

0 references

1 reference

based on heuristic

inferred from title

author name string

Hakoda M

1

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

Yamanaka H

2

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

Kamatani N

3

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

Kamatani N

4

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

language of work or name

0 references

publication date

1 March 1991

1 reference

Europe PubMed Central

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21 September 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

48

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

3

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

552-562

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

Gene action in the X-chromosome of the mouse (Mus musculus L.)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682998

22 September 2017

T-cell cloning to detect the mutant 6-thioguanine-resistant lymphocytes present in human peripheral blood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682998

22 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=1682998

22 September 2017

Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682998

22 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=1682998

22 September 2017

Molecular characterization of 15 rearrangements among 90 human in vivo somatic mutants shows that deletions predominate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682998

22 September 2017

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682998

22 September 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=1682998

22 September 2017

Mutations in human lymphocytes commonly involve gene duplication and resemble those seen in cancer cels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682998

22 September 2017

Sph I restriction fragment length polymorphism on human chromosome 16 detected with an APRT gene probe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682998

22 September 2017

Cloning of phenotypically different human lymphocytes originating from a single stem cell

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682998

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682998

22 September 2017

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=1682998

17 June 2018

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=1682998

17 June 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=1682998

17 June 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=1682998

17 June 2018

Homozygous deficiency at autosomal locus aprt in human somatic cells in vivo induced by two different mechanisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682998

17 June 2018

Complete deficiency of adenine phosphoribosyltransferase. Report of a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/1998341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of in vivo mutations in human lymphocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1998341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered kinetic properties of a mutant adenine phosphoribosyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1998341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recessive mutant genes predisposing to human cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/1998341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1998341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analyses of in vivo hprt mutations in human T-lymphocytes. I. Studies of low frequency 'spontaneous' mutants by Southern blots

1 reference

https://pubmed.ncbi.nlm.nih.gov/1998341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in human lymphocytes studied by an HLA selection system

1 reference

https://pubmed.ncbi.nlm.nih.gov/1998341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analyses of in vivo hprt mutant T cells from atomic bomb survivors

1 reference

https://pubmed.ncbi.nlm.nih.gov/1998341

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/1998341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 September 2017

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