Whole‐exome sequencing and host cell reactivation assay lead to a diagnosis of xeroderma pigmentosum group D with mild ultraviolet radiation sensitivity-Reference-Cited by-同舟云学术

Whole‐exome sequencing and host cell reactivation assay lead to a diagnosis of xeroderma pigmentosum group D with mild ultraviolet radiation sensitivity

Published:2020-09-24 Issue:1 Volume:48 Page:96-100
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J. Dermatol.

Author:

Sugaya Makoto¹²^ORCID,Funamizu Kaoru²,Kono Michihiro³⁴,Okuno Yusuke⁵,Kondo Taisuke³,Ono Ryusuke⁶,Akiyama Masashi³^ORCID,Nishigori Chikako⁶^ORCID,Sato Shinichi²

Affiliation:

1. Department of Dermatology International University of Health and Welfare ChibaJapan

2. Department of Dermatology University of Tokyo Graduate School of Medicine TokyoJapan

3. Department of Dermatology Nagoya University Graduate School of Medicine NagoyaJapan

4. Department of Dermatology and Plastic Surgery Akita University Graduate School of Medicine AkitaJapan

5. Medical Genomics Center Nagoya University Hospital NagoyaJapan

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

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.15617

Reference12 articles.

1. The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase η

2. Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population

3. Xeroderma pigmentosum - bridging a gap between clinic and laboratory

4. Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type

5. Differences in Clinical Phenotype among Patients with XP Complementation Group D: 3D Structure and ATP-Docking of XPD In Silico

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. TFIIH central activity in nucleotide excision repair to prevent disease;DNA Repair;2023-12