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
The American Journal of Human Genetics2007Vol. 80(3), pp. 457–466
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Nicolaas G.J. Jaspers, Anja Raams, Margherita Silengo, Nils Wijgers, Laura J. Niedernhofer, Andria R. Robinson, Giuseppina Giglia‐Mari, Deborah Hoogstraten, Wim J. Kleijer, Jan H.J. Hoeijmakers, Wim Vermeulen
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