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Article

Molecular analysis directs the prognosis, management and treatment of patients with xeroderma pigmentosum.

DNA repair - 1 Sept 2020

Lehmann Alan R, Fassihi Hiva

Abstract excerpt

Xeroderma pigmentosum (XP) is a well-studied disorder of (in most cases) nucleotide excision repair. The establishment in 2010 of a multidisciplinary XP clinic in the UK has enabled us to make a detailed analysis of genotype-phenotype relationships in XP patients and in several instances to make confident prognostic predictions. Splicing mutations in XPA and XPD and a specific amino acid change in XPD are...

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Identifiers

PMID: 33087273
DOI: 10.1016/j.dnarep.2020.102907

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