共 50 条
- [1] POINT MUTATIONS IN CYP11B1 CAUSING STEROID 11-BETA-HYDROXYLASE DEFICIENCY [J]. CLINICAL RESEARCH, 1992, 40 (02): : A310 - A310
- [4] A NONSENSE MUTATION (TGG[TRP(116)]-]TAG [STOP]) IN CYP11B1 CAUSES STEROID 11-BETA-HYDROXYLASE DEFICIENCY [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1993, 77 (06): : 1677 - 1682
- [7] A MUTATION IN CYP11B1 (ARG-448-]HIS) ASSOCIATED WITH STEROID 11-BETA-HYDROXYLASE DEFICIENCY IN JEWS OF MOROCCAN ORIGIN [J]. JOURNAL OF CLINICAL INVESTIGATION, 1991, 87 (05): : 1664 - 1667
- [9] Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations [J]. European Journal of Human Genetics, 2014, 22 : 610 - 616