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Article

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

Haematologica - 1 Apr 2012

Walne Amanda J, Dokal Arran, Plagnol Vincent, Beswick Richard, Kirwan Michael, de la Fuente Josu, Vulliamy Tom, Dokal Inderjeet

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22180433
DOI: 10.3324/haematol.2011.052787
PMCID: PMC3347658

Genes

MPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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