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
| Autor: | 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 |
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| Zdroj: | In The American Journal of Human Genetics 2007 80(3):457-466 |
| Databáze: | ScienceDirect |
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