Ontology highlight
ABSTRACT:
SUBMITTER: Walne AJ
PROVIDER: S-EPMC3347658 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Walne Amanda J AJ Dokal Arran A Plagnol Vincent V Beswick Richard R Kirwan Michael M de la Fuente Josu J Vulliamy Tom T Dokal Inderjeet I
Haematologica 20111216 4
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 on a GAIIx genome analyzer. Once the disease causing homozygous mutation had been confirmed in the consanguineous family, this gene was then analyzed for mutation in 33 uncharacterized index cases of a ...[more]