What is the role of genetic testing in the investigation of patients with suspected platelet function disorders? - Wikidata - wikimedia - TriplyDB

What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?

What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?

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Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH.Detection of mild inherited disorders of blood coagulation: current options and personal recommendations.Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding.Mean platelet diameter measurements to classify inherited thrombocytopenias.Comparison of multiple electrode aggregometry with lumi-aggregometry for the diagnosis of patients with mild bleeding disorders.Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia

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What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?

http://www.wikidata.org/entity/Q38183490

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British Journal of Haematology

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What is the role of genetic te ...... d platelet function disorders?

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Gillian C Lowe

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Martina E Daly

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Vincenzo C Leo

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P2860

Identification of the platelet ADP receptor targeted by antithrombotic drugs

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

ACTN1 mutations cause congenital macrothrombocytopenia

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

Targeted capture and massively parallel sequencing of 12 human exomes

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

Genotyping and phenotyping of platelet function disorders

Disease gene identification strategies for exome sequencing

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193-203

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scholarly article

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10.1111/BJH.12751

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165

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Steve P. Watson

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2014-01-30T00:00:00Z

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24479992

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