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

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Description scientific article
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author: Wim Vermeulen  Nils Wijgers  Margherita Cirillo Silengo  Deborah Hoogstraten  Jan Hoeijmakers  Giuseppina Giglia-Mari 

Publication date March 2007
Language English
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