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
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
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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