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Journal Article
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 5, pp. 535 - 538
Journal Article
American Journal of Hematology, ISSN 0361-8609, 08/2019, Volume 94, Issue 8, pp. E199 - E201
Journal Article
Journal Article
Haematologica, ISSN 0390-6078, 2016, Volume 101, Issue 12, pp. 1479 - 1488
Eltrombopag is a small, non-peptide thrombopoietin mimetic that has been approved for increasing platelet count not only in immune thrombocytopenia and... 
Journal Article
Haematologica, ISSN 0390-6078, 02/2016, Volume 101, Issue 2, pp. 115 - 208
Journal Article
Human Mutation, ISSN 1059-7794, 02/2014, Volume 35, Issue 2, pp. 236 - 247
Journal Article
Journal Article
Journal Article
American Journal of Hematology, ISSN 0361-8609, 06/2019, Volume 94, Issue 6, pp. 667 - 677
MYH9 ‐related disease ( MYH9 ‐RD) is a rare, autosomal dominant disorder caused by mutations in MYH9 , the gene encoding the actin‐activated motor protein... 
LYTIC GRANULES | F-ACTIN | ERYTHROCYTES | CRYSTAL-STRUCTURE | MACROTHROMBOCYTOPENIA | NONMUSCLE | MYH9 | ENUCLEATION | IDENTIFICATION | HEMATOLOGY | ELLIPTOCYTOSIS | Spectrin | Cataracts | Deafness | Phenotypes | Deformability | Blood cells | Erythrocytes | Cytology | Blood | Hereditary diseases | Filaments | Actin | Myosin | Peripheral blood | Hemoglobin | Mutation | Kidney diseases
Journal Article
British Journal of Haematology, ISSN 0007-1048, 10/2018, Volume 183, Issue 2, pp. 276 - 288
The inherited thrombocytopenias ( IT ) are a heterogeneous group of diseases resulting from mutations in more than 30 different genes. Among them, ACTN 1... 
ACTN | mutations | gene | thrombocytopenia | related thrombocytopenia | macrocytosis | ACTN1 gene | ACTN1-related thrombocytopenia | DOMAIN | INHERITED THROMBOCYTOPENIAS | CONGENITAL MACROTHROMBOCYTOPENIA | FAMILIES | DISORDERS | HEMATOLOGY | Thrombocytopenia | Genetic aspects | Clinical aspects | Actinin | Benign | Isoforms | Muscles | Heredity | Mutation | Platelets | Bleeding | Index Medicus
Journal Article