A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.
Tài liệu tham khảo
Roy Chowdhury, 1989, 1367
Ritter, 1991, J. Biol. Chem., 266, 1043, 10.1016/S0021-9258(17)35280-8
Harding, 1988, Proc. Natl. Acad. Sci. U. S. A., 85, 8381, 10.1073/pnas.85.22.8381
Wooster, 1991, Biochem. J., 278, 465, 10.1042/bj2780465
Ritter, 1992, J. Biol. Chem., 267, 3257, 10.1016/S0021-9258(19)50724-4
Harding, 1990, Ann. Hum. Genet., 54, 17, 10.1111/j.1469-1809.1990.tb00356.x
Van Es, 1990, J. Clin. Invest., 85, 1199, 10.1172/JCI114553
Kaufman, 1986, Hepatology (Baltimore), 6, 1259, 10.1002/hep.1840060606
Gonzalez, 1983, J. Biol. Chem., 258, 1363, 10.1016/S0021-9258(18)33202-2
Ritter, 1992, J. Clin. Invest., 90, 150, 10.1172/JCI115829
Ausubel, 1992
Ritter, 1990, J. Biol. Chem., 265, 7900, 10.1016/S0021-9258(19)39016-7
Toghrol, 1990, Biochemistry, 29, 2349, 10.1021/bi00461a020
Bansal, 1980, Anal. Biochem., 109, 321, 10.1016/0003-2697(80)90655-7
Sato, 1990, Biochem. Biophys. Res. Commun., 169, 260, 10.1016/0006-291X(90)91462-2
Watson, 1984, Nucleic Acids Res., 12, 5145, 10.1093/nar/12.13.5145
Whitmer, 1986, J. Biol. Chem., 261, 7170, 10.1016/S0021-9258(17)38370-9
Gunn, 1938, J. Hered., 29, 137, 10.1093/oxfordjournals.jhered.a104478
Owens, 1992, Pharmacogenetics, 2, 93, 10.1097/00008571-199206000-00001
Iyanagi, 1989, J. Biol. Chem., 264, 21302, 10.1016/S0021-9258(19)30079-1
Bosma, 1992, FASEB J., 6, 2859, 10.1096/fasebj.6.10.1634050
Bosma, 1992, Hepatology (Baltimore), 15, 941, 10.1002/hep.1840150531
Chen, 1993, Biochemistry
Arion, 1972, J. Biol. Chem., 247, 2558, 10.1016/S0021-9258(19)45462-8
Thigpen, 1992, J. Clin. Invest., 90, 799, 10.1172/JCI115954