Article
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics.
Current opinion in genetics & development - 1 Aug 2015
Bogliolo Massimo, Surrallés Jordi
Abstract excerpt
Fanconi anemia (FA) is characterized by bone marrow failure, malformations, and chromosome fragility. We review the recent discovery of FA genes and efforts to develop genetic therapies for FA in the last five years. Because current data exclude FANCM as an FA gene, 15 genes remain bona fide FA genes and three (FANCO, FANCR and FANCS) cause an FA like syndrome. Monoallelic mutations in 6 FA associated genes...
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