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

doi:10.1182/blood-2010-08-299917

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Article

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

Blood - 7 Apr 2011

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 Angeles, Rodríguez-Villa Antonia, Gómez Pedro, Barbot José, Tapia María, Molinés Antonio, Figuera Angela, Bueren Juan A, Surrallés Jordi

Abstract excerpt

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 characterized for their distribution in populations, mode of emergence, or functional consequences at cellular and...

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Identifiers

PMID: 21273304
DOI: 10.1182/blood-2010-08-299917
PMCID: PMC3083295

Genes

FANCA

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