A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype

Background The nucleotide excision repair (NER) pathway repairs UV‐induced DNA lesions in an accurate fashion and prevents UV‐irradiated areas of the skin from tumour formation. The XPA protein plays a major role in DNA damage demarcation as well as stabilization of other NER factors and was found t...

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