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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J. Hoeijmakers | G. Giglia-Mari | W. Vermeulen | D. Hoogstraten | M. Silengo | L. Niedernhofer | A. Robinson | N. Wijgers | N. Jaspers | A. Raams | W. Kleijer | Giuseppina Giglia-Mari