Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency-Reference-Cited by-同舟云学术

Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency

Published:2010-02-01 Issue:2 Volume:95 Page:779-788
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Parajes Silvia¹²,Loidi Lourdes²,Reisch Nicole¹,Dhir Vivek¹,Rose Ian T.¹,Hampel Rainer³,Quinkler Marcus⁴,Conway Gerard S.⁵,Castro-Feijóo Lidia⁶,Araujo-Vilar David⁷,Pombo Manuel⁶,Dominguez Fernando²,Williams Emma L.⁸,Cole Trevor R.⁹,Kirk Jeremy M.¹⁰,Kaminsky Elke¹¹,Rumsby Gill⁸,Arlt Wiebke¹,Krone Nils¹

Affiliation:

1. Centre for Endocrinology, Diabetes, and Metabolism (S.P., N.R., V.D., I.T.R., W.A., N.K.), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom

2. Unidad de Medicina Molecular, Fundación Pública Gallega de Medicina Genómica (S.P., L.L., F.D.), 15706 Santiago de Compostela, Spain

3. Endocrinology and Metabolism (R.H.), Department of Internal Medicine, University Hospital Rostock, 18057 Rostock, Germany

4. Clinical Endocrinology (M.Q.), Charité Campus Mitte, Charité University Medicine Berlin, 10117 Berlin, Germany

5. Department of Endocrinology (G.S.C.), University College London Hospitals, London WC1E 6DB, United Kingdom

6. Unidad de Endocrinología, Crecimiento y Adolescencia (L.C.-F., M.P.), Complejo Hospitalario Universitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain

7. Servicio de Endocrinologia (D.A.-V.), Complejo Hospitalario Universitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain

8. Clinical Biochemistry (G.R., E.L.W.), University College London Hospitals, London WC1E 6DB, United Kingdom

9. Clinical Genetics Unit (T.R.C.), Birmingham Women’s Hospital, Birmingham B15 2TG, United Kingdom

10. Department of Paediatric Endocrinology and Diabetes (J.M.K.), Birmingham Children’s Hospital, Birmingham B4 6NH, United Kingdom

11. Praxis für Humangenetik (E.K.), 22339 Hamburg, Germany

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/95/2/779/9067043/jcem0779.pdf

Reference41 articles.

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2. CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 β-hydroxylase deficiency;Joehrer;Hum Mol Genet,1997

3. Cosegregation of a novel homozygous CYP11B1 mutation with the phenotype of non-classical congenital adrenal hyperplasia in a consanguineous family;Peters;Horm Res,2007

4. Congenital adrenal hyperplasia;Speiser;N Engl J Med,2003

5. Characterization of two genes encoding human steroid 11 β-hydroxylase (P-450(11) β);Mornet;J Biol Chem,1989

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