Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene

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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Bibliographic Details
Main Authors: Claire Goursaud, Delphine Mallet, Alexandre Janin, Rita Menassa, Véronique Tardy-Guidollet, Gianni Russo, Anne Lienhardt-Roussie, Claudine Lecointre, Ingrid Plotton, Yves Morel, Florence Roucher-Boulez
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-09-01
Series:Frontiers in Endocrinology
Subjects:
CYP11A1
alternative splicing
adrenal insufficiency
disorders of sex development
congenital lipoid adrenal hyperplasia
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2018.00491/full

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https://www.frontiersin.org/article/10.3389/fendo.2018.00491/full

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