First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure

Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndrom...

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Bibliografiska uppgifter
Huvudupphovsmän: Jaspers, Nicolaas G. J., Raams, Anja, Silengo, Margherita Cirillo, Wijgers, Nils, Niedernhofer, Laura J., Robinson, Andria Rasile, Giglia-Mari, Giuseppina, Hoogstraten, Deborah, Kleijer, Wim J., Hoeijmakers, Jan H. J., Vermeulen, Wim
Materialtyp: Artigo
Språk:Inglês
Publicerad: The American Society of Human Genetics 2007
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1821117/
https://ncbi.nlm.nih.gov/pubmed/17273966
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