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A Novel Nonstop Mutation in the Stop Codon and a Novel Missense Mutation in the Type II 3β-Hydroxysteroid Dehydrogenase (3β-HSD) Gene Causing, Respectively, Nonclassic and Classic 3β-HSD Deficiency Congenital Adrenal Hyperplasia

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Year: 2002
Type: article
Source: The Journal of Clinical Endocrinology & Metabolism
DOI: 10.1210/jcem.87.6.8559
Authors: Songya Pang, Weihua Wang, Barry Rich, Raphael David, Ying Tai Chang, Goldy Carbunaru, Susan E. Myers, A. Forbes Howie, Karen J. Smillie, J. Ian Mason
Institutions: University of Illinois Chicago, University of Chicago, New York University, Saint Louis University, University of Edinburgh
Language: English

Topic: Sexual Differentiation and Disorders
Subfield: Molecular Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: National Institutes of Health, University of Illinois at Urbana-Champaign, U.S. Public Health Service, University of Illinois at Chicago, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: G5670057312, ETIOLOGY, HORMONAL CRITERIA OF 3 BETA HSD DEFICIENCY
OpenAlex ID: W2062778218
FWCI: 0.695
Cites: 24
Cited by: 49
Related to: 10
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