Correlation of Phenotype/Genotype in a Cohort of 23 Xeroderma Pigmentosum-Variant Patients Reveals 12 New Disease-CausingPOLHMutations-Reference-Cited by-同舟云学术

Correlation of Phenotype/Genotype in a Cohort of 23 Xeroderma Pigmentosum-Variant Patients Reveals 12 New Disease-CausingPOLHMutations

Published:2013-11-04 Issue:1 Volume:35 Page:117-128
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Opletalova Kristina¹²,Bourillon Agnès³,Yang Wei⁴,Pouvelle Caroline¹⁵,Armier Jacques¹,Despras Emmanuelle¹⁵,Martin Ludovic⁶,Mateus Christine²,Robert Caroline²,Kannouche Patricia¹⁵,Soufir Nadem³⁷,Sarasin Alain¹⁸

Affiliation:

1. Laboratory of Genetic Stability and Oncogenesis; UMR8200 CNRS, University Paris-Sud and Institut Gustave Roussy; Villejuif France

2. Department of Dermatology; Institut Gustave Roussy; Villejuif France

3. Laboratoire de Génétique; Hôpital Bichat, APHP; Paris France

4. Laboratory of Molecular Biology, NIDDK; National Institutes of Health; Bethesda Maryland

5. Equipe labellisée Ligue Contre le Cancer “TLS polymerases and cancer”; University Paris-Sud and Institut de Cancérologie Gustave Roussy; Villejuif France

6. Service de Dermatologie; CHU Angers; Angers France

7. Inserm U976; Centre de Recherche Sur la Peau; Hôpital Saint Louis; APHP and University Paris; Paris France

8. Department of Genetics; Institut Gustave Roussy; Villejuif France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference31 articles.

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3. Structure and mechanism of human DNA polymerase eta;Biertümpfel;Nature,2010

4. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair;Bradford;J Med Genet,2011

5. Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum variant patients;Broughton;Proc Natl Acad Sci USA,2002

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