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.
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M. Forest | J. Simard | J. Chaussain | A. Moisan | M. Ricketts | V. Tardy | M. Desrochers | F. Mébarki | S. Cabrol | M. Raux-Demay | W. Sippell | M. Peter | Y. Morel