Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1.

Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1.

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http://www.wikidata.org/entity/Q31814852
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.Inherited thrombocytopenias-recent advances in clinical and molecular aspects.Inherited platelet dysfunction and hematopoietic transcription factor mutations.Hematopoietic transcription factor mutations: important players in inherited platelet defects.FLI1 level during megakaryopoiesis affects thrombopoiesis and platelet biology.ISTH Advanced Training Course on platelet bleeding disorders: How should they be investigated?St. Anne's College, Oxford, 6-9th September 2016.Singling out FLI1 in Paris-Trousseau syndrome.Thrombocytopenia and CD34 expression is decoupled from α-granule deficiency with mutation of the first growth factor-independent 1B zinc finger.Induced Pluripotent Stem Cell-Derived Megakaryocytes and Platelets for Disease Modeling and Future Clinical Applications.High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders.11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report.Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?Genomics and transcriptomics of megakaryocytes and platelets: Implications for health and disease
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Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1.

Item
http://www.wikidata.org/entity/Q31814852
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2015 nî lūn-bûn
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2015 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Paris-Trousseau thrombocytopen ...... nding domain mutation in FLI1.
@ast
Paris-Trousseau thrombocytopen ...... nding domain mutation in FLI1.
@en
type
label
Paris-Trousseau thrombocytopen ...... nding domain mutation in FLI1.
@ast
Paris-Trousseau thrombocytopen ...... nding domain mutation in FLI1.
@en
prefLabel
Paris-Trousseau thrombocytopen ...... nding domain mutation in FLI1.
@ast
Paris-Trousseau thrombocytopen ...... nding domain mutation in FLI1.
@en
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P1476
P2093
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P31
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P478
P50
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P5875
P698
P921
P356
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Paris-Trousseau thrombocytopen ...... inding domain mutation in FLI1
@en
P2093
P304
P31
P356
10.1182/BLOOD-2015-06-650887
P407
P433
P478
P50
P577
P5875
P698
P921