macrothrombocytopenia—autosomal dominant—TUBB1-related

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macrothrombocytopenia—autosomal dominant—TUBB1-related2016-11-26T23:21:09+00:00

macrothrombocytopenia—autosomal dominant—TUBB1-related 

HAEMATOLOGY

An autosomal dominant haematologic disorder (OMIM:613112) characterised by increased platelet size and reduced number of circulating platelets

Molecular pathology Defects in TUBB1–which encodes a tubulin, cause macrothrombocytopenia—autosomal dominant—TUBB1-related (MAD-TUBB1). 

Abbreviation MAD-TUBB1 

References http://www.uniprot.org/uniprot/Q9H4B7

http://omim.org/entry/613112

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