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...

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Detalles Bibliográficos
Autores principales: Burget, Lukas, Parera, Laura Audí, Fernandez-Cancio, Monica, Gräni, Rolf, Henzen, Christoph, Flück, Christa E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863243/
https://www.ncbi.nlm.nih.gov/pubmed/29576868
http://dx.doi.org/10.1530/EDM-18-0003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863243/
https://www.ncbi.nlm.nih.gov/pubmed/29576868
http://dx.doi.org/10.1530/EDM-18-0003

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