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New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
Moisan AM, Ricketts ML, Tardy V, Desrochers M, Mébarki F, Chaussain JL, Cabrol S, Raux-Demay MC, Forest MG, Sippell WG, Peter M, Morel Y, Simard J. Moisan AM, et al. Among authors: ricketts ml. J Clin Endocrinol Metab. 1999 Dec;84(12):4410-25. doi: 10.1210/jcem.84.12.6288. J Clin Endocrinol Metab. 1999. PMID: 10599696
31 results