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A novel point mutation in P450c17 (CYP17) causing combined 17α-hydroxylase/17,20-lyase deficiency
ArticleAbstract: Context: Combined 17α-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperPalabras claves:Autores:Achermann J.C., Ahmad T., Brooke A.M., Gore M.E., Lin L., Monson J.P., Papari-Zareei M., Richard J. Auchus, Rumsby G., Shepherd J.H., Taylor N.F.Fuentes:scopusVariable phenotypes associated with aromatase (CYP19) insufficiency in humans
ArticleAbstract: Context: The P450 enzyme aromatase (CYP19) plays a crucial role in the endocrine and paracrine biosyPalabras claves:Autores:Achermann J.C., Burren C.P., Creighton S.M., Dattani M.T., Ercan O., Lin , Raza J., Richard J. AuchusFuentes:scopus