A NovelCYP11B2Gene Mutation in an Asian Family with Aldosterone Synthase Deficiency

Author:

Løvås Kristian12,McFarlane Ian3,Nguyen Huy-Hoang4,Curran Suzanne1,Schwabe John5,Halsall David3,Bernhardt Rita4,Wallace A. Michael6,Chatterjee V. Krishna K.1

Affiliation:

1. Department of Medicine (K.L., S.C., V.K.K.C.), University of Cambridge, Cambridge CB2 1TN, United Kingdom

2. Institute of Medicine (K.L.), University of Bergen, 5009 Bergen Norway

3. Department of Clinical Biochemistry (I.M., D.H.), Addenbrooke’s Hospital, Cambridge CB2 0QQ, United Kingdom

4. Institute of Biochemistry (H.-H.N., R.B.), Saarland University, D-66123 Saarbrucken, Germany

5. Laboratory of Molecular Biology (J.S.), Cambridge CB2 0QH, United Kingdom

6. Department of Biochemistry (A.M.W.), North Glasgow University Hospitals, Glasgow G11 6NT, United Kingdom

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference19 articles.

1. The natural history of salt-wasting disorders of adrenal and renal origin.;Rosler;J Clin Endocrinol Metab,1984

2. Aldosterone synthase deficiency and related disorders.;White;Mol Cell Endocrinol,2004

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

4. Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research.;Shackleton;J Steroid Biochem Mol Biol,1993

5. Quantitation of cortisol and related 3-oxo-4-ene steroids in urine using gas chromatography/mass spectrometry with stable isotope-labeled internal standards.;Palermo;Steroids,1996

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