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

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 studie...

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Detalhes bibliográficos
Publicado no:Blood Adv
Main Authors: Gadoury-Levesque, Vanessa, Dong, Lei, Su, Rui, Chen, Jianjun, Zhang, Kejian, Risma, Kimberly A., Marsh, Rebecca A., Sun, Miao
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2020
Assuntos:
Immunobiology and Immunotherapy
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7322966/
https://ncbi.nlm.nih.gov/pubmed/32542393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2020001605
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