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Article

Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients.

Endocrine - 1 Aug 2013

Abbaszadegan Mohammad Reza, Hassani Soolmaz, Vakili Rahim, Saberi Mohammad Reza, Baradaran-Heravi Alireza, A'rabi Azadeh, Hashemipour Mahin, Razzaghi-Azar Maryam, Moaven Omeed, Baratian Ali, Ahadian Mitra, Keify Fatemeh, Meurice Nathalie

Abstract excerpt

Mutations in the 11β-hydroxylase (CYP11B1) gene are the second leading cause of congenital adrenal hyperplasia (CAH), an autosomal recessive disorder characterized by adrenal insufficiency, virilization of female external genitalia, and hypertension with or without hypokalemic alkalosis. Molecular analysis of CYP11B1 gene in CAH patients with 11β-hydroxylase deficiency was performed in this study. Cycle...

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PMID: 23345044
DOI: 10.1007/s12020-012-9861-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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