2014•HaematologicaOpen access

Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4

Laura C. Collopy, A. J. Walne, T. Vulliamy, Inderjeet Dokal

Abstract

The bone marrow failure (BMF) syndromes are a collection of heterogeneous disorders characterized by failure to produce blood cells of one or more lineage. Aplastic anemia (AA) is a rare, life threatening disorder defined by pancytopenia and a hypocellular bone marrow. Approximately 75% of cases are

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Key concepts: Pancytopenia, Aplastic anemia, Bone marrow failure, Bone marrow, Lineage (genetic), Medicine, Anemia, Gene