Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD.
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J. Simard | É. Rhéaume | J. Carel | J. Chaussain | F. Labrie | F. Mébarki | Y. Morel | É. Gagnon | R. Sanchez