ACTN1 mutations cause congenital macrothrombocytopenia.

Abstract

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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Cite this paper

@article{Kunishima2013ACTN1MC, title={ACTN1 mutations cause congenital macrothrombocytopenia.}, author={Shinji Kunishima and Yusuke Okuno and Kenichi Yoshida and Yuichi Shiraishi and Masashi Sanada and Hideki Muramatsu and Kenichi Chiba and Hiroko Tanaka and K{\^o}ji Miyazaki and Michio Sakai and Masatoshi Ohtake and Ryoji Kobayashi and Akihiro Iguchi and Gen Niimi and Makoto Otsu and Yoshiyuki Takahashi and Satoru Miyano and Hidehiko Saito and Seiji Kojima and Seishi Ogawa}, journal={American journal of human genetics}, year={2013}, volume={92 3}, pages={431-8} }