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Novel mutations in a child with congenital amegakaryocytic thrombocytopenia
Author(s) -
Pemberton Lucy C.,
Levett Diana,
Skinner Roderick,
Hall Andrew G.,
Hanley John P.
Publication year - 2006
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2006.06358.x
Subject(s) - medicine , pancytopenia , hepatosplenomegaly , congenital neutropenia , missense mutation , bone marrow , pediatrics , bone marrow failure , frameshift mutation , neutropenia , immunology , thrombocytopenic purpura , nonsense mutation , platelet disorder , aplastic anemia , thrombopoietin , platelet , mutation , genetics , biology , haematopoiesis , disease , stem cell , toxicity , gene
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