Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing

Article

Abstract: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present wit

Palabras claves:

Addison disease, CYP11A1, Cytochrome p450scc, Side chain cleavage enzyme, Silent variant

Autores:

Achermann J.C., Brain C.E., Buonocore F., Burgos-Tirado N., Capper C.P., Cariou B., Cheetham T.D., Conwell L.S., Couch R., Crowne E., Donaldson M.D., Drui D., Duncan E.L., Fowler D.J., Guasti L., Gupta S., Guran T., Gurbuz F., Harris M., Hindmarsh P.C., Hughes C.R., Johnson S., Lindsay R., Lopez-Siguero J.P., Maharaj A., Maudhoo A., McInerney-Leo A.M., Meimaridou E., Metherell L.A., Peng H.M., Prasad R., Richard J. Auchus, Ruiz-Babot G., Spoudeas H.A., Striglioni N., Suntharalingham J.P., Yuksel B.

Fuentes:

scopus