Phenotype description and response to thrombopoietin receptor agonist in -related disorder

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Phenotype description and response to thrombopoietin receptor agonist in -related disorder

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http://www.wikidata.org/entity/Q58717272

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scientific article published on 01 September 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2018

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name

Phenotype description and resp ...... r agonist in -related disorder

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Phenotype description and resp ...... r agonist in -related disorder

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label

Phenotype description and resp ...... r agonist in -related disorder

@en

Phenotype description and resp ...... r agonist in -related disorder

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prefLabel

Phenotype description and resp ...... r agonist in -related disorder

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Phenotype description and resp ...... r agonist in -related disorder

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P1476

Phenotype description and resp ...... ist in DIAPH1-related disorder

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Andrew D Mumford

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Carly Kempster

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Chantal Thys

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Cheng Hock Toh

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Claire Burney

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Jose Rivera

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Kate Downes

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NIHR BioResource–Rare Diseases

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Neil V Morgan

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Samya G Obaji

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P2860

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

Inherited platelet disorders: toward DNA-based diagnosis

Crystal Structure of a Complex between Amino and Carboxy Terminal Fragments of mDia1: Insights into Autoinhibition of Diaphanous-Related Formins

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

Comparative analyses of the small molecule thrombopoietin receptor agonist eltrombopag and thrombopoietin on in vitro platelet function.

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations.

In vivo effects of eltrombopag on platelet function in immune thrombocytopenia: no evidence of platelet activation.

Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

First successful use of eltrombopag before surgery in a child with MYH9-related thrombocytopenia.

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2341-2346

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scholarly article

case report

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10.1182/BLOODADVANCES.2018020370

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English

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P478

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P577

2018-09-01T00:00:00Z

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30232087

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6156883

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