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De novo disruption of promoter and exon 1 of STAR gene reveals essential role for gonadal development

SUMMARY: Cholesterol transport into the mitochondria is required for synthesis of the first steroid, pregnenolone. Cholesterol is transported by the steroidogenic acute regulatory protein (STAR), which acts at the outer mitochondrial membrane prior to its import. Mutations in the STAR protein result...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Endocrinol Diabetes Metab Case Rep
Päätekijät: Piya, Anil, Kaur, Jasmeet, Rice, Alan M, Bose, Himangshu S
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Bioscientifica Ltd 2017
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5404458/
https://ncbi.nlm.nih.gov/pubmed/28458886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-16-0120
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