A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa (Q33522373)

27 July 2017

title

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa (English)

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27 July 2017

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xeroderma pigmentosum

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xeroderma pigmentosum group C

litr

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Smail Hadj-Rabia

11

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Frédéric Austerlitz

4

object named as

Frederic Austerlitz

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27 July 2017

Cecile Ged

2

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Alain Sarasin

17

object named as

Alain Sarasin

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13

Alain Taieb

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Nadem Soufir

1

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Agnes Bourillon

3

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Cécile Chemin

5

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Anne Stary

6

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Jacques Armier

7

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Daniele Pham

8

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Khadija Khadir

9

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Joelle Roume

10

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Bakar Bouadjar

12

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Hubert de Verneuil

14

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Hakima Benchiki

15

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Bernard Grandchamp

16

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language of work or name

English

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publication date

7 January 2010

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Journal of Investigative Dermatology

27 July 2017

published in

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volume

130

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issue

6

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page(s)

1537-1542

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https://scigraph.springernature.com/pub.10.1038/jid.2009.409

27 July 2017

exact match

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cites work

Genetic correction of DNA repair-deficient/cancer-prone xeroderma pigmentosum group C keratinocytes

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https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis

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https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

Nucleotide excision repair syndromes: molecular basis and clinical symptoms

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https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

Defective Repair Replication of DNA in Xeroderma Pigmentosum

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

Xeroderma pigmentosum group C in an isolated region of Guatemala

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

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https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

Characterization of molecular defects in xeroderma pigmentosum group C

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https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

Skin cancers, blindness, and anterior tongue mass in African brothers

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https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta

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https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

Catalase overexpression reduces UVB-induced apoptosis in a human xeroderma pigmentosum reconstructed epidermis.

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https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

New insights for understanding the transcription-coupled repair pathway

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https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

The genetics of the hereditary xeroderma pigmentosum syndrome

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https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

New estimates of intergenerational time intervals for the calculation of age and origins of mutations

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https://api.crossref.org/works/10.1038%2FJID.2009.409

7 January 2021

Identifiers

DOI

10.1038/JID.2009.409

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Dimensions Publication ID

27 July 2017

1014794124

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