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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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Detalhes bibliográficos
Main Authors: Walne, Amanda J., Dokal, Arran, Plagnol, Vincent, Beswick, Richard, Kirwan, Michael, de la Fuente, Josu, Vulliamy, Tom, Dokal, Inderjeet
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2012
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Acesso em linha: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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