Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR)-Reference-Cited by-同舟云学术

Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR)

Published:2010-07-01 Issue:7 Volume:95 Page:3352-3359
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Sahakitrungruang Taninee¹²,Soccio Raymond E.³,Lang-Muritano Mariarosaria⁴,Walker Joanna M.⁵,Achermann John C.⁶,Miller Walter L.¹

Affiliation:

1. Department of Pediatrics (T.S., W.L.M.), University of California, San Francisco, San Francisco, California 94143

2. Department of Pediatrics (T.S.), Chulalongkorn University, 10330 Bangkok, Thailand

3. Division of Endocrinology, Diabetes, and Metabolism (R.E.S.), Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania 19104

4. University Children’s Hospital (M.L.-M.), 8008 Zurich Switzerland

5. Portsmouth Hospitals National Health Service Trust (J.M.W.), Portsmouth PO6 3LY, United Kingdom

6. Clinical and Molecular Genetics Unit (J.C.A.), Developmental Endocrinology Research Group, UCL Institute of Child Health, University College London, London WC1N 1EH, United Kingdom

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/95/7/3352/9068307/jcem3352.pdf

Reference39 articles.

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3. Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia.;Lin;J Clin Invest,1991

4. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis.;Lin;Science,1995

5. T→A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.;Tee;Hum Mol Genet,1995

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