Article
Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita.
Clinical endocrinology - 1 Nov 2006
Laissue Paul, Copelli Silvia, Bergada Ignacio, Bergada Cesar, Barrio Gabriel, Karaboga Sinan, Wurtz Jean Marie, Fellous Marc, Lalli Enzo, Veitia Reiner A
Abstract excerpt
OBJECTIVE: Mutations in DAX-1, an X-linked gene encoding an orphan nuclear receptor, have been associated with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Here we describe two novel DAX-1 mutations, Y214X and I361T, associated with childhood-onset primary adrenal failure. We aimed at analysing their effects on protein localization, transcriptional activity and propose a structural-function...
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