Identification and functional characterization of compound heterozygous CYP11B1 gene mutations
Author:
Funder
National Key Research and Development Program of China
Special fund for Taishan industrial leading talent project
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s12020-023-03614-1.pdf
Reference55 articles.
1. K. Bulsari, H. Falhammar, Clinical perspectives in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. Endocrine 55(1), 19–36 (2017). https://doi.org/10.1007/s12020-016-1189-x
2. A. Khattab, S. Haider, A. Kumar, S. Dhawan, D. Alam, R. Romero et al. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. Proc. Natl Acad. Sci. USA 114(10), E1933–E1940 (2017). https://doi.org/10.1073/pnas.1621082114
3. L. Schiffer, S. Anderko, F. Hannemann, A. Eiden-Plach, R. Bernhardt, The CYP11B subfamily. J. Steroid Biochem. Mol. Biol. 151, 38–51 (2015). https://doi.org/10.1016/j.jsbmb.2014.10.011
4. W.L. Miller, Minireview: regulation of steroidogenesis by electron transfer. Endocrinology 146(6), 2544–2550 (2005). https://doi.org/10.1210/en.2005-0096
5. Y.S. Zhu, J.J. Cordero, S. Can, L.Q. Cai, X. You, C. Herrera et al. Mutations in CYP11B1 gene: phenotype-genotype correlations. Am. J. Med Genet A 122A(3), 193–200 (2003). https://doi.org/10.1002/ajmg.a.20108
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