Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing


Fanconi anemia (FA) is a rare genetic instability syndrome characterized by developmental defects, bone marrow failure, and a high cancer risk. Fifteen genetic subtypes have been distinguished. The majority of patients (≈85%) belong to the subtypes A (≈60%), C (≈15%) or G (≈10%), while a minority (≈15%) is distributed over the remaining 12 subtypes. All… (More)
DOI: 10.1155/2012/132856

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