New insight into the molecular basis of 3β-hydroxysteroid dehydrogenase deficiency: Identification of eight mutations in the HSD3B2 gene in eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes

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Bibliographic Details
Published in:The journal of clinical endocrinology and metabolism 1999, Vol.84 (12), p.4410-4425
Main Authors: MOISAN, A. M, RICKETTS, M. L, PETER, M, MOREL, Y, SIMARD, J, TARDY, V, DESROCHERS, M, MEBARKI, F, CHAUSSAIN, J.-L, CABROL, S, RAUX-DEMAY, M. C, FOREST, M. G, SIPPELL, W. G
Format: Article
Language:English
Subjects:
Adrenals. Adrenal axis. Renin-angiotensin system (diseases)
Biological and medical sciences
Endocrinopathies
Medical sciences
Non tumoral diseases. Target tissue resistance. Benign neoplasms
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ISSN:0021-972X
1945-7197
DOI:10.1210/jc.84.12.4410