Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Fanconi anemia (FA) is a rare genomic instability syndrome. Disease-causing are biallelic mutations in any one of at least 15 genes encoding members of the FA/BRCA pathway of DNA-interstrand crosslink repair. Patients are diagnosed based upon phenotypical manifestationsand the diagnosis of FA is con...

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Detalles Bibliográficos
Autores principales: Knies, Kerstin, Schuster, Beatrice, Ameziane, Najim, Rooimans, Martin, Bettecken, Thomas, de Winter, Johan, Schindler, Detlev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3527584/
https://www.ncbi.nlm.nih.gov/pubmed/23285130
http://dx.doi.org/10.1371/journal.pone.0052648

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