Article
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
American journal of human genetics - 2 May 2013
Bogliolo Massimo, Schuster Beatrice, Stoepker Chantal, Derkunt Burak, Su Yan, Raams Anja, Trujillo Juan P, Minguillón Jordi, Ramírez María J, Pujol Roser, Casado José A, Baños Rocío, Rio Paula, Knies Kerstin, Zúñiga Sheila, Benítez Javier, Bueren Juan A, Jaspers Nicolaas G J, Schärer Orlando D, de Winter Johan P, Schindler Detlev, Surrallés Jordi
Abstract excerpt
Fanconi anemia (FA) is a rare genomic instability disorder characterized by progressive bone marrow failure and predisposition to cancer. FA-associated gene products are involved in the repair of DNA interstrand crosslinks (ICLs). Fifteen FA-associated genes have been identified, but the genetic basis in some individuals still remains unresolved. Here, we used whole-exome and Sanger sequencing on DNA of...
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