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Article

Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.

Journal of thrombosis and haemostasis : JTH - 1 Apr 2015

Leo V C, Morgan N V, Bem D, Jones M L, Lowe G C, Lordkipanidzé M, Drake S, Simpson M A, Gissen P, Mumford A, Watson S P, Daly M E

Abstract excerpt

BACKGROUND: Inherited platelet function disorders (PFDs) are heterogeneous, and identification of the underlying genetic defects is difficult when based solely on phenotypic and clinical features of the patient. OBJECTIVE: To analyze 329 genes regulating platelet function, number, and size in order to identify candidate gene defects in patients with PFDs. PATIENTS/METHODS: Targeted analysis of candidate PFD genes...

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Identifiers

PMID: 25556537
DOI: 10.1111/jth.12836
PMCID: PMC4383639

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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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