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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Research Articles
Acesso em linha: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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