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 sequ...

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Hoofdauteurs: Kunishima, Shinji, Okuno, Yusuke, Yoshida, Kenichi, Shiraishi, Yuichi, Sanada, Masashi, Muramatsu, Hideki, Chiba, Kenichi, Tanaka, Hiroko, Miyazaki, Koji, Sakai, Michio, Ohtake, Masatoshi, Kobayashi, Ryoji, Iguchi, Akihiro, Niimi, Gen, Otsu, Makoto, Takahashi, Yoshiyuki, Miyano, Satoru, Saito, Hidehiko, Kojima, Seiji, Ogawa, Seishi
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2013
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3591851/
https://ncbi.nlm.nih.gov/pubmed/23434115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.01.015
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