Associated Papers
Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.
Liu H et al.
Endocrine, 2024
Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.
Sun B et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report.
Duan L et al.
Bmc Endocrine Disorders, 2018
The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency.
Long Y et al.
Endocrine Journal, 2016
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