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- [21] Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia [J]. AACE CLINICAL CASE REPORTS, 2022, 8 (06): : 271 - 274
- [22] Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients [J]. Endocrine, 2013, 44 : 212 - 219
- [23] Congenital Adrenal Hyperplasia caused by compound heterozygosity of two novel CYP11B1gene variants [J]. HORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 1): : 197 - 198
- [24] Three Novel CYP11B1 Mutations in Congenital Adrenal Hyperplasia due to Steroid 11Beta-Hydroxylase Deficiency in a Moroccan Population [J]. HORMONE RESEARCH IN PAEDIATRICS, 2010, 74 (03): : 182 - 189
- [28] Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene [J]. JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 2016, 155 : 126 - 134
- [29] Erratum to: Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients [J]. Endocrine, 2013, 44 : 271 - 271
- [30] 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