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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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 1999, Vol.84 (12), p.4410-4425
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Biological and medical sciences Endocrinopathies Medical sciences Non tumoral diseases. Target tissue resistance. Benign neoplasms
Online-Zugang:	Volltext
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