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Article

High-throughput sequencing for diagnosing platelet disorders: lessons learned from exploring the causes of bleeding disorders.

International journal of laboratory hematology - 1 May 2018

Heremans J, Freson K

Abstract excerpt

Inherited platelet disorders (IPDs) are a heterogeneous group of disorders caused by multiple genetic defects. Obtaining a molecular diagnosis for IPD patients using a phenotype- and laboratory-based approach is complex, expensive, time-consuming, and not always successful. High-throughput sequencing (HTS) methods offer a genotype-based approach to facilitate molecular diagnostics. Such approaches are expected to...

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Identifiers

PMID: 29741246
DOI: 10.1111/ijlh.12812

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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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