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R. Dalgleish, Boning up on mutations: assessing the significance of candidate disease-causing DNA sequence variation, vol. 10. pp. 1518-1521, 2011.
Cartegni L, Wang J, Zhu Z, Zhang MQ, et al. (2003). ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res. 31: 3568-3571. doi:10.1093/nar/gkg616 PMid:12824367    PMCid:169022 Dalgleish R, Flicek P, Cunningham F, Astashyn A, et al. (2010). Locus reference genomic sequences: an improved basis for describing human DNA variants. Genome Med. 2: 24. doi:10.1186/gm145 PMid:20398331    PMCid:2873802 Dogan RI, Getoor L, Wilbur WJ and Mount SM (2007). SplicePort - an interactive splice-site analysis tool. Nucleic Acids Res. 35: W285-W291. doi:10.1093/nar/gkm407 PMid:17576680    PMCid:1933122 Lin S and Fu XD (2007). SR proteins and related factors in alternative splicing. Adv. Exp. Med. Biol. 623: 107-122. doi:10.1007/978-0-387-77374-2_7 Sherry ST, Ward MH, Kholodov M, Baker J, et al. (2001). dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 29: 308-311. doi:10.1093/nar/29.1.308 PMid:11125122    PMCid:29783 Yang Z, Ke ZF, Zeng C, Wang Z, et al. (2011). Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta. Genet. Mol. Res. 10: 177-185. doi:10.4238/vol10-1gmr984 PMid:21341209