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Article

Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.

International journal of laboratory hematology - 1 Dec 2021

Xinh Phan Thi, Chuong Ho Quoc, Diem Truong Pham Hong, Nguyen Tuan Minh, Van Nguyen Dinh, Mai Anh Nguyen Hoang, Nghia Huynh, Vu Hoang Anh

Abstract excerpt

INTRODUCTION: The prevalence of gene mutations in hemophagocytic lymphohistiocytosis (HLH) varied between studies. Thus far, data on the genetic background of HLH in Vietnamese patients are limited. METHODS: We recruited 94 HLH patients and analyzed for the 4 genes using Sanger sequencing technology. RESULTS: Pathogenic variants were observed in 36 (38.29%) patients, including 27 in UNC13D, 5 in STXBP2, 3 in...

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PMID: 34339548
DOI: 10.1111/ijlh.13674

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