Work

Characterization of Two Novel Homozygous Missense Mutations Involving Codon 6 and 259 of Type II 3β-Hydroxysteroid Dehydrogenase (3βHSD) Gene Causing, Respectively, Nonsalt-Wasting and Salt-Wasting 3βHSD Deficiency Disorder1

Year: 2000

Type: article

Source: The Journal of Clinical Endocrinology & Metabolism

DOI: 10.1210/jcem.85.4.6539

Authors: Li Zhang, J. Ian Mason, Yasuhiro Naiki, Kenneth C. Copeland, Mariano Castro-Magana, Timothy T. Gordon-Walker, Ying T. Chang, Songya Pang

Institutions: University of Illinois Chicago, University of Edinburgh, Baylor College of Medicine, State University of New York

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, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G5334544750, ETIOLOGY, HORMONAL CRITERIA OF 3 BETA HSD DEFICIENCY

OpenAlex ID: W2170926281

FWCI: 0.722

Cites: 28

Cited by: 29

Related to: 10