Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system (Q28141620)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6808163&resulttype=core&format=json

12 May 2020

author name string

T Funato

1

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12 May 2020

Y Nishiyama

2

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12 May 2020

N Ioritani

3

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12 May 2020

R Matsuki

4

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12 May 2020

K Yoshida

5

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12 May 2020

M Kaku

6

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12 May 2020

T Sasaki

7

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12 May 2020

H Ideguchi

8

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12 May 2020

J Ono

9

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Journal of Clinical Laboratory Analysis

12 May 2020

language of work or name

English

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publication date

2000

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published in

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12 May 2020

volume

14

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12 May 2020

issue

6

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12 May 2020

page(s)

274-279

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

12 May 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C274%3A%3AAID-JCLA5%3E3.0.CO%3B2-2

Direct sequencing of polymerase chain reaction-amplified DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C274%3A%3AAID-JCLA5%3E3.0.CO%3B2-2

Mutation detection by denaturing gradient gel electrophoresis (DGGE).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C274%3A%3AAID-JCLA5%3E3.0.CO%3B2-2

Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C274%3A%3AAID-JCLA5%3E3.0.CO%3B2-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C274%3A%3AAID-JCLA5%3E3.0.CO%3B2-2

Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C274%3A%3AAID-JCLA5%3E3.0.CO%3B2-2

76 Adenine phosphoribosyltransferase from Escherichia coli

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C274%3A%3AAID-JCLA5%3E3.0.CO%3B2-2

Allelic discrimination using fluorogenic probes and the 5' nuclease assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2825%2820001212%2914%3A6%3C274%3A%3AAID-JCLA5%3E3.0.CO%3B2-2

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

21 January 2018

1 reference

12 December 2020

A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects

1 reference

12 December 2020

Continuous fluorescence monitoring of rapid cycle DNA amplification

1 reference

12 December 2020

Rapid, homogeneous genotyping of the 4G/5G polymorphism in the promoter region of the PAII gene by fluorescence resonance energy transfer and probe melting curves

1 reference

12 December 2020

LightCycler technology for the quantitation of bcr/abl fusion transcripts.

1 reference

12 December 2020

2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus

1 reference

12 December 2020

Rapid genotyping of hemochromatosis gene mutations on the LightCycler with fluorescent hybridization probes

1 reference

12 December 2020

10.1002/1098-2825(20001212)14:6<274::AID-JCLA5>3.0.CO;2-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6808163&resulttype=core&format=json

12 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6808163&resulttype=core&format=json

12 May 2020

PubMed publication ID

11138609

1 reference