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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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| Main Authors: | , , , , , , , , , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2013
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| Assuntos: | |
| Acesso em linha: | 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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