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...

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Vydáno v:Front Endocrinol (Lausanne)
Hlavní autoři: Goursaud, Claire, Mallet, Delphine, Janin, Alexandre, Menassa, Rita, Tardy-Guidollet, Véronique, Russo, Gianni, Lienhardt-Roussie, Anne, Lecointre, Claudine, Plotton, Ingrid, Morel, Yves, Roucher-Boulez, Florence
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2018
Témata:
Endocrinology
On-line přístup: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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