ACTN1 mutations cause congenital macrothrombocytopenia.


Congenital macrothrombocytopenia (CMTP) is a heterogeneous group of rare platelet disorders characterized by a congenital reduction of platelet counts and abnormally large platelets, for which CMTP-causing mutations are only found in approximately half the cases. We herein performed whole-exome sequencing and targeted Sanger sequencing to identify mutations… (More)
DOI: 10.1016/j.ajhg.2013.01.015


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