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Article

Xeroderma Pigmentosum: Gene Variants and Splice Variants.

Genes - 29 Jul 2021

Martens Marie Christine, Emmert Steffen, Boeckmann Lars

Abstract excerpt

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 (XP). XP is a rare autosomal recessive genetic disorder associated with UV-sensitivity and early onset of skin...

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Identifiers

PMID: 34440347
DOI: 10.3390/genes12081173
PMCID: PMC8391564

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