A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing-Reference-Cited by-同舟云学术

A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing

Published:2016-06-30 Issue:4 Volume:32 Page:174-180
ISSN:0905-4383
Container-title:Photodermatology, Photoimmunology & Photomedicine
language:en
Short-container-title:Photodermatol. Photoimmunol. Photomed.

Author:

Ono Ryusuke¹,Masaki Taro¹,Mayca Pozo Franklin²,Nakazawa Yuka³⁴,Swagemakers Sigrid M. A.⁵,Nakano Eiji¹,Sakai Wataru²,Takeuchi Seiji¹,Kanda Fumio⁶⁷,Ogi Tomoo³⁴,van der Spek Peter J.⁵,Sugasawa Kaoru²,Nishigori Chikako¹

Affiliation:

1. Division of Dermatology; Department of Internal Related; Kobe University Graduate School of Medicine; Kobe Japan

2. Biosignal Research Center, Organization of Advanced Science and Technology; Kobe University; Kobe Japan

3. Nagasaki University Research Centre for Genomic Instability and Carcinogenesis; Nagasaki University; Nagasaki Japan

4. Department of Genetics; Research Institute of Environmental Medicine; Nagoya University; Nagoya Japan

5. Department of Bioinformatics; Erasmus University Medical Centre; Rotterdam The Netherlands

6. Division of Neurology; Kobe University Graduate School of Medicine; Kobe Japan

7. Integrated Clinical Education Center; Kobe University Hospital; Kobe Japan

Publisher

Wiley

Subject

Dermatology,Radiology, Nuclear Medicine and imaging,Immunology,General Medicine,Immunology and Allergy

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/phpp.12240/fullpdf

Reference14 articles.

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3. Four types of possible founder mutations are response for 87% of Japanese patients with xeroderma pigmentosum variant types;Masaki;J Dermatol Sci,2008

4. Differences in clinical phenotype among patients with XP complementation group D: 3D structure and ATP-docking of XPD in silico;Nakano;J Invest Dermatol,2014

5. Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type;Tanioka;J Invest Dermatol,2007

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