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Article

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

British journal of haematology - 1 Apr 2014

Daly Martina E, Leo Vincenzo C, Lowe Gillian C, Watson Steve P, Morgan Neil V

Abstract excerpt

Inherited platelet function disorders (PFDs), associated with normal or reduced platelet counts, account for a significant proportion of bleeding diatheses. Identification of the underlying genetic defects is difficult in the majority of cases due to the variable clinical expression of the bleeding symptoms and the redundancy of platelet receptor and signalling pathways, which add to the complexity of diagnosis....

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PMID: 24479992
DOI: 10.1111/bjh.12751

Genes

LTA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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