A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene
Steroidogenic acute regulatory protein (STAR) is a key protein for the intracellular transport of cholesterol to the mitochondrium in endocrine organs (e.g. adrenal gland, ovaries, testes) and essential for the synthesis of all steroid hormones. Several mutations have been described and the clinical...
| Glavni autori: | , , , , , |
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| Format: | Članak |
| Jezik: | English |
| Izdano: |
Bioscientifica
2018-03-01
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| Serija: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online pristup: | https://www.edmcasereports.com/articles/endocrinology-diabetes-and-metabolism-case-reports/10.1530/EDM-18-0003 |