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Article

Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses.

Molecular genetics and metabolism - 1 Aug 2010

Nguyen Huy-Hoang, Hannemann Frank, Hartmann Michaela F, Malunowicz Ewa M, Wudy Stefan A, Bernhardt Rita

Abstract excerpt

CONTEXT: Aldosterone synthase deficiency (ASD) is an important differential diagnosis of diseases associated with salt wasting in early infancy. OBJECTIVE: The objective of this study was to investigate the molecular basis for the disorder by (1) molecular genetic analysis in the CYP11B2 from patients suffering from ASD type I. (2) Functional characterization of the missense mutant gene products. (3) Structural...

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PMID: 20494601
DOI: 10.1016/j.ymgme.2010.04.016

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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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