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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene
Context: The cholesterol side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. CYP11A1 mutations are associated with primary adrenal insufficiency (PAI) as well as disorders of sex development (DSD) in 46,XY pat...
में बचाया:
| में प्रकाशित: | Front Endocrinol (Lausanne) |
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| मुख्य लेखकों: | , , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Frontiers Media S.A.
2018
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6134065/ https://ncbi.nlm.nih.gov/pubmed/30233493 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2018.00491 |
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