Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

The primary cause of aplastic anemia remains unknown in many patients. The aim of this study was to clarify the genetic cause of familial aplastic anemia. Genomic DNA of an affected individual from a multiplex consanguineous family was hybridized to a Nimblegen exome library before being sequenced o...

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Detalles Bibliográficos
Autores principales: Walne, Amanda J., Dokal, Arran, Plagnol, Vincent, Beswick, Richard, Kirwan, Michael, de la Fuente, Josu, Vulliamy, Tom, Dokal, Inderjeet
Formato: Artigo
Lenguaje:Inglês
Publicado: Ferrata Storti Foundation 2012
Materias:
Original Articles and Brief Reports
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3347658/
https://ncbi.nlm.nih.gov/pubmed/22180433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2011.052787
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