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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發表在:Hum Mutat
Main Authors: Vincenot, Anne, Saultier, Paul, Kunishima, Shinji, Poggi, Marjorie, Hurtaud‐Roux, Marie‐Françoise, Roussel, Alain, ACTN1 study coinvestigators, Schlegel, Nicole, Alessi, Marie‐Christine
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2019
主題:
Research Articles
在線閱讀: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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