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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主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: American Society of Hematology 2011
主題:
Clinical Trials and Observations
オンライン･アクセス: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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