Congenital Lipoid Adrenal Hyperplasia: Functional Characterization of Three Novel Mutations in the STAR Gene


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Bens S., Mohn A., YÜKSEL B. , Kulle A. E. , Michalek M., Chiarelli F., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.95, ss.1301-1308, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 95 Konu: 3
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1210/jc.2009-1176
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayısı: ss.1301-1308

Özet

Context: The steroidogenic acute regulatory protein (StAR) has been shown to be essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause the typical clinical picture of congenital lipoid adrenal hyperplasia.