ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization
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چکیده
منابع مشابه
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-related thrombocytopenia; ACTN1-RT). To better characterize this disease, we screened ACTN1 in 1...
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Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, Trieste, Italy; Genetica Medica, Dipartimento di Scienze Mediche Chirurgiche, Policlinico Sant’Orsola-Malpighi, University of Bologna, Bologna, Italy; Department of Medical Sciences and Department of Life Sciences, University of Trieste, Trieste, Italy; Department of Internal Medicine, U...
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ژورنال
عنوان ژورنال: Blood
سال: 2015
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2014-08-594531