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Article

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Blood advances - 23 Jun 2020

Gadoury-Levesque Vanessa, Dong Lei, Su Rui, Chen Jianjun, Zhang Kejian, Risma Kimberly A, Marsh Rebecca A, Sun Miao

Abstract excerpt

This article explores the distribution and mutation spectrum of potential disease-causing genetic variants in hemophagocytic lymphohistiocytosis (HLH)-associated genes observed in a large tertiary clinical referral laboratory. Samples from 1892 patients submitted for HLH genetic analysis were studied between September 2013 and June 2018 using a targeted next-generation sequencing panel approach. Patients ranged...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32542393
DOI: 10.1182/bloodadvances.2020001605
PMCID: PMC7322966

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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