TY - JOUR T1 - Functional characterization of a novel missense mutation (P341L) in the HSD3B2 gene causing classic 3beta-hydroxysteroid dehydrogenase deficiency (3 beta-HSD) congenital adrenal hyperplasia (CAH) JO - HORMONE RESEARCH PY - 2006/01/01 AU - Welzel M AU - Krone N AU - Schleicher GS AU - Sippell WG AU - Holterhus PM AU - Riepe FG ED - VL - 65 SP - 116 EP - 116 Y2 - 2024/12/22 ER -