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Novel ACTN1 variants in cases of thrombocytopenia
The ACTN1 gene has been implicated in inherited macrothrombocytopenia. To decipher the spectrum of variants and phenotype of ACTN1‐related thrombocytopenia, we sequenced the ACTN1 gene in 272 cases of unexplained chronic or familial thrombocytopenia. We identified 15 rare, monoallelic, nonsynonymous...
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| 出版年: | Hum Mutat |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6900141/ https://ncbi.nlm.nih.gov/pubmed/31237726 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23840 |
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