Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia-Reference-Cited by-同舟云学术

Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia

Published:2008-04-01 Issue:4 Volume:93 Page:1418-1425
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Welzel Maik¹,Wüstemann Nele¹,Ŝimić-Schleicher Gunter²,Dörr Helmuth G.³,Schulze Egbert⁴,Shaikh Guftar⁵,Clayton Peter⁵,Grötzinger Joachim⁶,Holterhus Paul-Martin¹,Riepe Felix G.¹

Affiliation:

1. Division of Pediatric Endocrinology (M.W., N.W., P.-M.H., F.G.R.), Department of Pediatrics, Christian-Albrechts Universität zu Kiel, 24105 Kiel, Germany

2. Children’s Hospital of Bremen-Nord (G.S.-S.), 28755 Bremen, Germany

3. Division of Pediatric Endocrinology (H.G.D.), Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-University of Erlangen-Nürnberg, 91054 Erlangen, Germany

4. Laboratory of Molecular Genetics (E.S.), 69121 Heidelberg, Germany

5. University of Manchester (G.S., P.C.), Manchester M13 9PL, United Kingdom

6. Institute of Biochemistry (J.G.), Christian-Albrechts-Universität zu Kiel, 24098 Kiel, Germany

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/93/4/1418/9057890/jcem1418.pdf

Reference28 articles.

1. The adrenogenital syndrome with deficiency of 3β-hydroxysteroid dehydrogenase.;Bongiovanni;J Clin Invest,1962

2. Molecular biology of the 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase gene family.;Simard;Endocr Rev,2005

3. Molecular study of the 3β-hydroxysteroid dehydrogenase gene type II in patients with hypospadias.;Codner;J Clin Endocrinol Metab,2004

4. Regional chromosomal assignment of human 3-β-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation.;Morrison;Hum Genet,1991

5. Congenital adrenal hyperplasia due to point mutations in the type II 3β-hydroxysteroid dehydrogenase gene.;Rheaume;Nat Genet,1992

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