Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.
Goursaud C, Mallet D, Janin A, Menassa R, Tardy-Guidollet V, Russo G, Lienhardt-Roussie A, Lecointre C, Plotton I, Morel Y, Roucher-Boulez F.
Goursaud C, et al.
Front Endocrinol (Lausanne). 2018 Sep 5;9:491. doi: 10.3389/fendo.2018.00491. eCollection 2018.
Front Endocrinol (Lausanne). 2018.
PMID: 30233493
Free PMC article.