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

BACKGROUND: 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/SNF DNA helicase family, a group of proteins involved...

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Detalles Bibliográficos
Autores principales:	Barresi, Vincenza, Ragusa, Angela, Fichera, Marco, Musso, Nicolò, Castiglia, Lucia, Rappazzo, Giancarlo, Travali, Salvatore, Mattina, Teresa, Romano, Corrado, Cocchi, Guido, Condorelli, Daniele F
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2010
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2915949/ https://www.ncbi.nlm.nih.gov/pubmed/20602808 http://dx.doi.org/10.1186/1755-8794-3-28

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