ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

Inherited thrombocytopenias (ITs) are a heterogeneous group of syndromic and nonsyndromic diseases caused by mutations affecting different genes. Alterations of ACTN1, the gene encoding for α-actinin 1, have recently been identified in a few families as being responsible for a mild form of IT (ACTN1...

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Vydáno v:Blood
Hlavní autoři: Bottega, Roberta, Marconi, Caterina, Faleschini, Michela, Baj, Gabriele, Cagioni, Claudia, Pecci, Alessandro, Pippucci, Tommaso, Ramenghi, Ugo, Pardini, Simonetta, Ngu, Loretta, Baronci, Carlo, Kunishima, Shinji, Balduini, Carlo L., Seri, Marco, Savoia, Anna, Noris, Patrizia
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2015
Témata:
Platelets and Thrombopoiesis
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4311232/
https://ncbi.nlm.nih.gov/pubmed/25361813
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-08-594531
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