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Lancet, The, ISSN 0140-6736, 2015, Volume 386, Issue 10004, pp. 1649 - 1658
Journal Article
Human Mutation, ISSN 1059-7794, 12/2010, Volume 31, Issue 12, pp. 1269 - 1279
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 07/2014, Volume 61, Issue 7, pp. 1319 - 1321
Mutations in the hematopoietic transcription factor GATA-1 alter the proliferation/differentiation of hemopoietic progenitors. Mutations in exon 2 interfere... 
Gata‐1 | Diamond–Blackfan | ribosomal protein | erythropoiesis | anemia | Diamond-Blackfan | Erythropoiesis | Anemia | Ribosomal protein | Gata-1 | Point Mutation | Codon, Initiator - genetics | Anemia, Diamond-Blackfan - genetics | Humans | GATA1 Transcription Factor - genetics | Female | Male | Protein Isoforms - genetics | Proteins | Genetic aspects | Genetic disorders | Index Medicus
Journal Article
Scientific reports, ISSN 2045-2322, 11/2018, Volume 8, Issue 1, pp. 17227 - 17227
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper. 
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
PLoS ONE, ISSN 1932-6203, 07/2014, Volume 9, Issue 7, pp. e101948 - e101948
Journal Article