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Results: 3
A new insight into the molecular basis of 3 beta-hydroxysteroid dehydrogenase deficiency
Authors: Simard, J Ricketts, AL Moisan, AM Tardy, V Peter, M Van Vliet, G Morel, Y
Citation: J. Simard et al., A new insight into the molecular basis of 3 beta-hydroxysteroid dehydrogenase deficiency, ENDOCRINE R, 26(4), 2000, pp. 761-770
A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: Evaluation of gonadal function after puberty
Authors: Alos, N Moisan, AM Ward, L Desrochers, M Legault, L Leboeuf, G Van Vliet, G Simard, J
Citation: N. Alos et al., A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: Evaluation of gonadal function after puberty, J CLIN END, 85(5), 2000, pp. 1968-1974
Commentary - New insight into the molecular basis of 3 beta-hydroxysteroiddehydrogenase deficiency: Identification of fight mutations in the HSD3B2 gene in eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes
Authors: Moisan, AM Ricketts, ML Tardy, V Desrochers, M Mebarki, F Chaussain, JL Cabrol, S Raux-Demay, MC Forest, MG Sippell, WG Peter, M Morel, Y Simard, J
Citation: Am. Moisan et al., Commentary - New insight into the molecular basis of 3 beta-hydroxysteroiddehydrogenase deficiency: Identification of fight mutations in the HSD3B2 gene in eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes, J CLIN END, 84(12), 1999, pp. 4410-4425
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