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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Bibliografiska uppgifter
I publikationen:Hum Mutat
Huvudupphovsmän: Vincenot, Anne, Saultier, Paul, Kunishima, Shinji, Poggi, Marjorie, Hurtaud‐Roux, Marie‐Françoise, Roussel, Alain, ACTN1 study coinvestigators, Schlegel, Nicole, Alessi, Marie‐Christine
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2019
Ämnen:
Research Articles
Länkar: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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