Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses-Reference-Cited by-同舟云学术

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

Published:2010-08 Issue:4 Volume:100 Page:357-364
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

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

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference34 articles.

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3. Modulation of aldosterone and cortisol synthesis on the molecular level;Lisurek;Mol. Cell. Endocrinol.,2004

4. The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone;Ulick;J. Clin. Endocrinol. Metab.,1992

5. Aldosterone synthase deficiency caused by a homozygous L451F mutation in the CYP11B2 gene;Nguyen;Mol. Genet. Metab.,2008

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