Characterization of a splicing mutation in group A xeroderma pigmentosum (Q24556519)

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3 November 2022

author name string

I. Satokata

1

1 reference

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3 November 2022

K. Tanaka

2

1 reference

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3 November 2022

N. Miura

3

1 reference

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3 November 2022

I. Miyamoto

4

1 reference

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3 November 2022

Y. Satoh

5

1 reference

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S. Kondo

6

1 reference

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Y. Okada

7

1 reference

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full work available at URL

3 November 2022

language of work or name

English

0 references

publication date

December 1990

0 references

https://europepmc.org/articles/PMC55283

1 reference

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https://europepmc.org/articles/PMC55283?pdf=render

3 November 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1702221

https://pnas.org/doi/pdf/10.1073/pnas.87.24.9908

3 November 2022

1 reference

Crossref

DOI

10.1073/PNAS.87.24.9908

https://api.crossref.org/works/10.1073/PNAS.87.24.9908

Proceedings of the National Academy of Sciences of the United States of America

3 November 2022

published in

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volume

87

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issue

24

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page(s)

9908-12

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cites work

Purification of Biologically Active Globin Messenger RNA by Chromatography on Oligothymidylic acid-Cellulose

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

DNA sequencing with chain-terminating inhibitors

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

Organization and expression of eucaryotic split genes coding for proteins

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

Selection for animal cells that express the Escherichia coli gene coding for xanthine-guanine phosphoribosyltransferase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

The thalassemias: molecular mechanisms of human genetic disease.

27 September 2017

1 reference

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Cancer predisposition, carcinogen hypersensitivity, and aberrant DNA metabolism.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

Defective Repair Replication of DNA in Xeroderma Pigmentosum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

Intron sequences involved in lariat formation during pre-mRNA splicing.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

Complementation of the xeroderma pigmentosum DNA repair defect in cell-free extracts.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55283

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

19 June 2018

1 reference

12 December 2020

Enhancing the efficiency of DNA-mediated gene transfer in mammalian cells

1 reference

12 December 2020

Defect in UV-induced unscheduled DNA synthesis in cultured epidermal keratinocytes from xeroderma pigmentosum

1 reference

12 December 2020

A ninth complementation group in xeroderma pigmentosum, XP I

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.87.24.9908

1 reference

ADS bibcode

1990PNAS...87.9908S

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1 reference

1 reference

1 reference