DNA excision repair protein ERCC-1
Definition:
References:
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[1]. Luc Friboulet, et al. ERCC1 function in nuclear excision and interstrand crosslink repair pathways is mediated exclusively by the ERCC1-202 isoform. Cell Cycle. 2013 Oct 15;12(20):3298-306. [Content Brief]
[2]. Kazuya Kashiyama, et al. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. Am J Hum Genet. 2013 May 2;92(5):807-19. [Content Brief]
[3]. Nicolaas G J Jaspers, et al. 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. Am J Hum Genet. 2007 Mar;80(3):457-66. [Content Brief]