Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type
Author:
Publisher
Elsevier BV
Subject
Dermatology,Molecular Biology,Biochemistry
Reference10 articles.
1. Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population;Hirai;Mutat Res,2006
2. Xeroderma pigmentosum—bridging a gap between clinic and laboratory;Moriwaki;Photodermatol Photoimmunol Photomed,2001
3. The XPV (xeroderma pigmentosum variant) gene encodes human DNApolymerase eta;Masutani;Nature,1999
4. hRAD30 mutations in the variant form of Xeroderma pigmentosum;Johnson;Science,1999
5. Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients;Broughton;Proc Natl Acad Sci,2002
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1. DNA repair ability in a patient with voriconazole-related squamous cell carcinoma that required differential diagnosis from xeroderma pigmentosum;Journal of Dermatological Science;2024-05
2. Deep intronic founder mutations identified in the ERCC4 / XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum;Proceedings of the National Academy of Sciences;2023-06-26
3. A case of Cockayne syndrome with unusually mild clinical manifestations;The Journal of Dermatology;2023-01-03
4. Whole‐exome sequencing and host cell reactivation assay lead to a diagnosis of xeroderma pigmentosum group D with mild ultraviolet radiation sensitivity;The Journal of Dermatology;2020-09-24
5. Lentigo maligna in a patient with xeroderma pigmentosum, variant type: A case report with dermoscopic findings and review of the literature;Photodermatology, Photoimmunology & Photomedicine;2020-05-21
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