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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:scopusArginine 276 controls the directional preference of AKR1C9 (rat liver 3α-hydroxysteroid dehydrogenase) in human embryonic kidney 293 cells
ArticleAbstract: Rat liver AKR1C9 is the best-studied 3α-hydroxysteroid dehydrogenase (3αHSD) of the aldo-keto reductPalabras claves:Autores:Brandmaier A., Papari-Zareei M., Richard J. AuchusFuentes:scopusTwo novel mutations found in a patient with 17α-hydroxylase enzyme deficiency
ArticleAbstract: Context: Congenital adrenal hyperplasia resulting from 17α- hydroxylase deficiency (17OHD) is a rarePalabras claves:Autores:Ergun-Longmire B., New M., Papari-Zareei M., Richard J. Auchus, Tansil S., Wilson R.Fuentes:scopus