A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype-Reference-Cited by-同舟云学术

A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype

Published:2014-11-13 Issue:12 Volume:29 Page:2479-2482
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Lehmann J.¹,Schubert S.¹,Schäfer A.¹,Laspe P.¹,Haenssle H.A.¹²,Ohlenbusch A.³,Gratchev A.⁴⁵⁶,Emmert S.¹

Affiliation:

1. Department of Dermatology, Venereology and Allergology; University Medical Center Göttingen; Göttingen Germany

2. Department of Dermatology, Venereology and Allergology; University Medical Center Heidelberg; Heidelberg Germany

3. Department of Pediatrics and Adolescent Medicine; Division of Pediatric Neurology; University Medical Center; Georg August University; Göttingen Germany

4. Department of Dermatology, Venereology and Allergology; University Medical Center Mannheim; Mannheim Germany

5. Institute of Carcinogenesis; NN Blokhin Cancer Research Center; Russian Academy of Medical Sciences; Moscow Russia

6. Laboratory for Translational Cellular and Molecular Biomedicine; Tomsk State University; Tomsk Russia

Funder

Heinz and Heide Dürr Stiftung

Deutsche Forschungsgemeinschaft DFG

Tomsk State University Competitiveness Improvement Program

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.12841/fullpdf

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4. Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription;Berneburg;Adv Genet,2001

5. Genetics and skin cancer of xeroderma pigmentosum in Japan;Takebe;Jpn J Cancer Res,1987

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