[From gene to disease: Fanconi anemia].

Abstract excerpt

Fanconi anaemia (FA) is an autosomal recessive hereditary disease featuring diverse clinical symptoms and a cellular hypersensitivity to cross-linking agents. FA patients suffer from developmental abnormalities, progressive anaemia and an increased risk of developing cancer. FA is associated with mutations in one of the group of seven FA genes identified to date. FA genes encode proteins that control a molecular...

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