Associated Papers
Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.
Liu H et al.
Endocrine, 2024
Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.
Karlekar MP et al.
Clinical Endocrinology, 2021
A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency.
Zhang M et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2013
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