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Pollitt syndrome patients carry mutation in TTDN1.
Swagemakers SM, Jaspers NG, Raams A, Heijsman D, Vermeulen W, Troelstra C, Kremer A, Lincoln SE, Tearle R, Hoeijmakers JH, van der Spek PJ. Swagemakers SM, et al. Among authors: van der spek pj. Meta Gene. 2014 Aug 30;2:616-8. doi: 10.1016/j.mgene.2014.08.001. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606444 Free PMC article.
Mutational analysis of the human nucleotide excision repair gene ERCC1.
Sijbers AM, van der Spek PJ, Odijk H, van den Berg J, van Duin M, Westerveld A, Jaspers NG, Bootsma D, Hoeijmakers JH. Sijbers AM, et al. Among authors: van der spek pj, van den berg j, van duin m. Nucleic Acids Res. 1996 Sep 1;24(17):3370-80. doi: 10.1093/nar/24.17.3370. Nucleic Acids Res. 1996. PMID: 8811092 Free PMC article.
Mammalian nucleotide excision repair and syndromes.
Vermeulen W, de Boer J, Citterio E, van Gool AJ, van der Horst GT, Jaspers NG, de Laat WL, Sijbers AM, van der Spek PJ, Sugasawa K, Weeda G, Winkler GS, Bootsma D, Egly JM, Hoeijmakers JH. Vermeulen W, et al. Among authors: van gool aj, van der horst gt, van der spek pj. Biochem Soc Trans. 1997 Feb;25(1):309-15. doi: 10.1042/bst0250309. Biochem Soc Trans. 1997. PMID: 9056889 Review. No abstract available.
253 results