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

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 (≈...

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Main Authors: Najim Ameziane, Daoud Sie, Stefan Dentro, Yavuz Ariyurek, Lianne Kerkhoven, Hans Joenje, Josephine C. Dorsman, Bauke Ylstra, Johan J. P. Gille, Erik A. Sistermans, Johan P. de Winter
Format: Article
Language:English
Published: Wiley 2012-01-01
Series:Anemia
Online Access:http://dx.doi.org/10.1155/2012/132856
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