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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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Detalles Bibliográficos
Autores principales: Martens, Marie Christine, Emmert, Steffen, Boeckmann, Lars
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391564/
https://www.ncbi.nlm.nih.gov/pubmed/34440347
http://dx.doi.org/10.3390/genes12081173