Alternative Splicing in COL1A1 mRNA Leads to a Partial Null Allele and Two In-frame Forms with Structural Defects in Non-lethal Osteogenesis Imperfecta
Tài liệu tham khảo
Sillence, 1979, J. Med. Genet., 16, 101, 10.1136/jmg.16.2.101
Prockop, 1984, N. Engl. J. Med., 311, 376, 10.1056/NEJM198408093110606
Byers, 1993, 317
Willing, 1994, Am. J. Hum. Genet., 55, 638
Wenstrup, 1993, Am. J. Med. Genet., 45, 228, 10.1002/ajmg.1320450215
Bateman, 1994, Biochem. J., 302, 729, 10.1042/bj3020729
Genovese, 1989, J. Biol. Chem., 264, 9632, 10.1016/S0021-9258(18)60577-0
Barsh, 1985, Proc. Natl. Acad. Sci. U. S. A., 82, 2870, 10.1073/pnas.82.9.2870
Barsh, 1981, Proc. Natl. Acad. Sci. U. S. A., 78, 5142, 10.1073/pnas.78.8.5142
Willing, 1988, J. Biol. Chem., 263, 8398, 10.1016/S0021-9258(18)68491-1
Robey, 1985, Calcif. Tissue Res., 37, 453, 10.1007/BF02557826
Bonadio, 1985, J. Biol. Chem., 260, 1734, 10.1016/S0021-9258(18)89655-7
Nicholls, 1992, Hum. Genet., 88, 627, 10.1007/BF02265286
Chomczynski, 1987, Anal. Biochem., 162, 156, 10.1016/0003-2697(87)90021-2
Saiki, 1988, Science, 239, 487, 10.1126/science.2448875
Bernard, 1983, Biochemistry, 22, 5213, 10.1021/bi00291a023
Orita, 1989, Proc. Natl. Acad. Sci. U. S. A., 86, 2766, 10.1073/pnas.86.8.2766
Sanger, 1977, Proc. Natl. Acad. Sci. U. S. A., 74, 5463, 10.1073/pnas.74.12.5463
Kozak, 1986, Cell, 44, 283, 10.1016/0092-8674(86)90762-2
Craig, 1992, Nucleic Acids Res., 20, 4987, 10.1093/nar/20.19.4987
Grange, 1990, Nucleic Acids Res., 18, 4227, 10.1093/nar/18.14.4227
Westerhausen, 1991, Matrix, 11, 375, 10.1016/S0934-8832(11)80191-5
Kadler, 1995, Biochem. J., 311, 815, 10.1042/bj3110815
Vetter, 1991, J. Bone Miner. Res., 6, 501, 10.1002/jbmr.5650060512