Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

Fanconi anemia is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. To investigate the origin, functional role, and clinical impact of FANCA mutations, we determined a FANCA mutational spectrum with 130 pathogenic alleles. Some of these mutations were further...

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Detalhes bibliográficos
Principais autores: Castella, Maria, Pujol, Roser, Callén, Elsa, Trujillo, Juan P., Casado, José A., Gille, Hans, Lach, Francis P., Auerbach, Arleen D., Schindler, Detlev, Benítez, Javier, Porto, Beatriz, Ferro, Teresa, Muñoz, Arturo, Sevilla, Julián, Madero, Luis, Cela, Elena, Beléndez, Cristina, de Heredia, Cristina Díaz, Olivé, Teresa, de Toledo, José Sánchez, Badell, Isabel, Torrent, Montserrat, Estella, Jesús, Dasí, Ángeles, Rodríguez-Villa, Antonia, Gómez, Pedro, Barbot, José, Tapia, María, Molinés, Antonio, Figuera, Ángela, Bueren, Juan A., Surrallés, Jordi
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2011
Assuntos:
Clinical Trials and Observations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083295/
https://ncbi.nlm.nih.gov/pubmed/21273304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2010-08-299917
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