Japanese case of xeroderma pigmentosum complementation group C with a novel mutation
Author:
Affiliation:
1. Division of Dermatology, Department of Internal Related; Kobe University Graduate School of Medicine; Kobe Japan
2. Department of Dermatology; National Center for Child Health and Development; Tokyo Japan
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.14098/fullpdf
Reference5 articles.
1. Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia;Khan;J Invest Dermatol,1998
2. Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population;Sun;Br J Dermatol,2015
3. Clinical and molecular epidemiological study of xeroderma pigmentosum in China: a case series of 19 patients;Zhou;J Dermatol,2017
4. XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms;Khan;DNA Repair,2009
5. Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum;Sheth;Int J Dermatol,2015
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1. Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps;Mutation Research/Reviews in Mutation Research;2022-01
2. 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
3. Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care;Photochemistry and Photobiology;2018-12-28
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