Hypomorphic PCNA mutation underlies a human DNA repair disorder
Volume: 124, Issue: 7, Pages: 3137 - 3146
Published: Jun 9, 2014
Abstract
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 short stature, hearing loss, premature aging, telangiectasia, neurodegeneration, and photosensitivity, resulting from a homozygous missense...
Paper Details
Title
Hypomorphic PCNA mutation underlies a human DNA repair disorder
Published Date
Jun 9, 2014
Volume
124
Issue
7
Pages
3137 - 3146
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