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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mutat
Egile Nagusiak: Vincenot, Anne, Saultier, Paul, Kunishima, Shinji, Poggi, Marjorie, Hurtaud‐Roux, Marie‐Françoise, Roussel, Alain, ACTN1 study coinvestigators, Schlegel, Nicole, Alessi, Marie‐Christine
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2019
Gaiak:
Research Articles
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak