A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia
Authors:
- 1 January 2008
- journal article
- Published by Japanese Society for Pediatric Endocrinology in Clinical Pediatric Endocrinology
- Vol. 17 (1) , 23-25
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
- Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenitaThe Journal of Steroid Biochemistry and Molecular Biology, 2003
- Mutations in the Steroidogenic Acute Regulatory Protein (StAR) in Six Patients with Congenital Lipoid Adrenal Hyperplasia1The Journal of Clinical Endocrinology & Metabolism, 2000
- Mutations in the Steroidogenic Acute Regulatory Protein (StAR) in Six Patients with Congenital Lipoid Adrenal HyperplasiaThe Journal of Clinical Endocrinology & Metabolism, 2000
- Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasiaHuman Molecular Genetics, 1997
- Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene.Journal of Clinical Investigation, 1997
- The Pathophysiology and Genetics of Congenital Lipoid Adrenal HyperplasiaNew England Journal of Medicine, 1996