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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Walne, Amanda J., Dokal, Arran, Plagnol, Vincent, Beswick, Richard, Kirwan, Michael, de la Fuente, Josu, Vulliamy, Tom, Dokal, Inderjeet
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Ferrata Storti Foundation 2012
Gaiak:
Original Articles and Brief Reports
Sarrera elektronikoa: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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