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Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva

BACKGROUND: The ACVR1 gene encodes a type I receptor for bone morphogenetic proteins (BMPs). Mutations in the ACVR1 gene are associated with Fibrodysplasia Ossificans Progressiva (FOP), a rare and extremely disabling disorder characterized by congenital malformation of the great toes and progressive...

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Detalles Bibliográficos
Autores principales: Giacopelli, Francesca, Cappato, Serena, Tonachini, Laura, Mura, Marzia, Di Lascio, Simona, Fornasari, Diego, Ravazzolo, Roberto, Bocciardi, Renata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015442/
https://www.ncbi.nlm.nih.gov/pubmed/24047559
http://dx.doi.org/10.1186/1750-1172-8-145