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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מידע ביבליוגרפי
Main Authors: Walne, Amanda J., Dokal, Arran, Plagnol, Vincent, Beswick, Richard, Kirwan, Michael, de la Fuente, Josu, Vulliamy, Tom, Dokal, Inderjeet
פורמט: Artigo
שפה:Inglês
יצא לאור: Ferrata Storti Foundation 2012
נושאים:
Original Articles and Brief Reports
גישה מקוונת: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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