Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia

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Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia

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im November 2015 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 26 November 2015

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wetenschappelijk artikel

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наукова стаття, опублікована в листопаді 2015

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name

Clinical, genealogical and mol ...... mplementation group in Tunisia

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Clinical, genealogical and mol ...... mplementation group in Tunisia

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Clinical, genealogical and mol ...... mplementation group in Tunisia

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Clinical, genealogical and mol ...... mplementation group in Tunisia

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Clinical, genealogical and mol ...... mplementation group in Tunisia

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Clinical, genealogical and mol ...... mplementation group in Tunisia

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P1476

Clinical, genealogical and mol ...... mplementation group in Tunisia

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A Khaled

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C Naouali

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H Boussen

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H Tounsi

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H Yacoub-Youssef

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M Chargui

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M Jerbi

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M Mokni

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M Nagara

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M S Boubaker

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P2860

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

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

Defective repair replication of DNA in xeroderma pigmentosum.

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.

Molecular pathogenesis of nodular goiter.

Xeroderma pigmentosum in Libya.

Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.

A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.

Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.

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439-443

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scholarly article

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10.1111/BJD.14046

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English

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174

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2015-11-26T00:00:00Z

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26211814

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dermatology