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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374947/
https://www.ncbi.nlm.nih.gov/pubmed/22720145
http://dx.doi.org/10.1155/2012/132856

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374947/
https://www.ncbi.nlm.nih.gov/pubmed/22720145
http://dx.doi.org/10.1155/2012/132856

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