Publications
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, “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