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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society of Hematology 2011
Gaiak:
Clinical Trials and Observations
Sarrera elektronikoa: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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