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Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS. Murray JE, et al. Among authors: blundell tl. Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728776 Free PMC article.
Crystal structure of an Xrcc4-DNA ligase IV complex.
Sibanda BL, Critchlow SE, Begun J, Pei XY, Jackson SP, Blundell TL, Pellegrini L. Sibanda BL, et al. Among authors: blundell tl. Nat Struct Biol. 2001 Dec;8(12):1015-9. doi: 10.1038/nsb725. Nat Struct Biol. 2001. PMID: 11702069
612 results