(Q33455433)

26 July 2017

title

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

1 reference

26 July 2017

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S Abdelhak

11

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Mariem Ben Rekaya

1 reference

ORCID Public Data File 2021

author name string

M Ben Rekaya

1

1 reference

26 July 2017

O Messaoud

2

1 reference

26 July 2017

F Talmoudi

3

1 reference

26 July 2017

S Nouira

4

1 reference

26 July 2017

H Ouragini

5

1 reference

26 July 2017

A Amouri

6

1 reference

26 July 2017

H Boussen

7

1 reference

26 July 2017

S Boubaker

8

1 reference

26 July 2017

M Mokni

9

1 reference

26 July 2017

I Mokthar

10

1 reference

26 July 2017

M Zghal

12

1 reference

26 July 2017

publication date

29 May 2009

1 reference

Journal of Human Genetics

26 July 2017

published in

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26 July 2017

volume

54

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26 July 2017

issue

7

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26 July 2017

page(s)

426-429

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https://scigraph.springernature.com/pub.10.1038/jhg.2009.50

26 July 2017

exact match

0 references

cites work

Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

An aromatic sensor with aversion to damaged strands confers versatility to DNA repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

7 January 2021

The genetics of the hereditary xeroderma pigmentosum syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

7 January 2021

Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

7 January 2021

Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

7 January 2021

New functions of XPC in the protection of human skin cells from oxidative damage

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

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%2FJHG.2009.50

7 January 2021

Characterization of molecular defects in xeroderma pigmentosum group C

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

7 January 2021

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

7 January 2021

A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

7 January 2021

Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

7 January 2021

Biochemical and structural domain analysis of xeroderma pigmentosum complementation group C protein

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

7 January 2021

A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

7 January 2021

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.50

7 January 2021

Identifiers

DOI

10.1038/JHG.2009.50

1 reference

Dimensions Publication ID

26 July 2017

1049215838

0 references

1 reference