Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

• Glavni autori: Travali Salvatore (Autor), Rappazzo Giancarlo (Autor), Castiglia Lucia (Autor), Musso Nicolò (Autor), Fichera Marco (Autor), Ragusa Angela (Autor), Barresi Vincenza (Autor), Mattina Teresa (Autor), Romano Corrado (Autor), Cocchi Guido (Autor), Condorelli Daniele F (Autor)
• Format: Knjiga
• Izdano: BMC, 2010-07-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. The disease is caused by mutations in ATRX gene, which encodes a protein belonging to the SWI...