Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type
Authors:
- Taro MasakiTMTaro Masaki
- Ryusuke OnoRORyusuke Ono
- Miki TaniokaMTMiki Tanioka
- Yoko FunasakaYFYoko Funasaka
- Tohru NaganoTNTohru Nagano
- Shinichi MoriwakiSMShinichi Moriwaki
- Chikako NishigoriCNChikako Nishigori
- 1 November 2008
- journal article
- other
- Published by Elsevier in Journal of Dermatological Science
- Vol. 52 (2) , 144-148
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- Molecular Analysis of DNA Polymerase Eta Gene in Japanese Patients Diagnosed as Xeroderma Pigmentosum Variant TypeJournal of Investigative Dermatology, 2007
- Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese populationMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2006
- Molecular genetics of Xeroderma pigmentosum variantExperimental Dermatology, 2003
- Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patientsProceedings of the National Academy of Sciences, 2002
- Xeroderma pigmentosum – bridging a gap between clinic and laboratoryPhotodermatology, Photoimmunology & Photomedicine, 2001
- Correlating Skin Type and Minimum Erythema DoseArchives of Dermatology, 1999
- hRAD30 Mutations in the Variant Form of Xeroderma PigmentosumScience, 1999
- The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase ηNature, 1999
- Xeroderma pigmentosum variant (XP‐V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activityThe EMBO Journal, 1999
- Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in JapanArchives of Dermatology, 1994