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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Front Endocrinol (Lausanne)
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2018
Matèries:
Endocrinology
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars