Hypomorphic PCNA mutation underlies a human DNA repair disorder
Numerous human disorders, including Cockayne syndrome, UV-sensitive syndrome, xeroderma pigmentosum, and trichothiodystrophy, result from the mutation of genes encoding molecules important for nucleotide excision repair. Here, we describe a syndrome in which the cardinal clinical features include sh...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
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Format: | Journal article |
Language: | English |
Published: |
American Society for Clinical Investigation
2014
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