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: Ameziane, Najim, Sie, Daoud, Dentro, Stefan, Ariyurek, Yavuz, Kerkhoven, Lianne, Joenje, Hans, Dorsman, Josephine C., Ylstra, Bauke, Gille, Johan J. P., Sistermans, Erik A., de Winter, Johan P.
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi Publishing Corporation 2012
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3374947/
https://ncbi.nlm.nih.gov/pubmed/22720145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/132856
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