Xeroderma Pigmentosum: Gene Variants and Splice Variants

Xeroderma Pigmentosum: Gene Variants and Splice Variants

The nucleotide excision repair (NER) is essential for the repair of ultraviolet (UV)-induced DNA damage, such as cyclobutane pyrimidine dimers (CPDs) and 6,4-pyrimidine-pyrimidone dimers (6,4-PPs). Alterations in genes of the NER can lead to DNA damage repair disorders such as Xeroderma pigmentosum...

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Bibliographic Details
Main Authors: Marie Christine Martens, Steffen Emmert, Lars Boeckmann
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Genes
Subjects:
Xeroderma pigmentosum
nucleotide excision repair
gene variants
alternative splicing
precision medicine
Online Access:https://www.mdpi.com/2073-4425/12/8/1173

Internet

https://www.mdpi.com/2073-4425/12/8/1173

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