High-throughput sequencing for rapid diagnosis of inherited platelet disorders: a case for a European consensus.

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High-throughput sequencing for rapid diagnosis of inherited platelet disorders: a case for a European consensus.

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2018 nî lūn-bûn

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2018年学术文章

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High-throughput sequencing for ...... case for a European consensus.

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High-throughput sequencing for ...... case for a European consensus.

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label

High-throughput sequencing for ...... case for a European consensus.

@en

High-throughput sequencing for ...... case for a European consensus.

@nl

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High-throughput sequencing for ...... case for a European consensus.

@en

High-throughput sequencing for ...... case for a European consensus.

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P1476

High-throughput sequencing for ...... case for a European consensus.

@en

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Alan T Nurden

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Paquita Nurden

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P2860

Inherited platelet disorders: toward DNA-based diagnosis

Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture.

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.

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

Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

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scholarly article

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10.3324/HAEMATOL.2017.182295

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103

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2018-01-01T00:00:00Z

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29290630

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5777186

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