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Article

Clinically accessible amplitude-based multiplex ddPCR assay for tryptase genotyping.

Scientific reports - 29 Jan 2024

Svetina Manca, Šelb Julij, Lyons Jonathan J, Korošec Peter, Rijavec Matija

Abstract excerpt

Hereditary α tryptasemia (HαT) is an autosomal dominant trait characterized by increased TPSAB1 copy number (CN) encoding α-tryptase. The determination of HαT is being discussed as an important biomarker to be included in risk assessment models and future diagnostic algorithms for patients with mastocytosis and anaphylaxis. Due to the complex genetic structure at the human tryptase locus, genetic testing for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38287122
DOI: 10.1038/s41598-024-52983-8
PMCID: PMC10825142

Provenance

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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