Article
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
The Journal of clinical investigation - 1 Jul 2014
Baple Emma L, Chambers Helen, Cross Harold E, Fawcett Heather, Nakazawa Yuka, Chioza Barry A, Harlalka Gaurav V, Mansour Sahar, Sreekantan-Nair Ajith, Patton Michael A, Muggenthaler Martina, Rich Phillip, Wagner Karin, Coblentz Roselyn, Stein Constance K, Last James I, Taylor A Malcolm R, Jackson Andrew P, Ogi Tomoo, Lehmann Alan R, Green Catherine M, Crosby Andrew H
Abstract excerpt
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...
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