Associated Papers
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3
Isolated Central Nervous System FHL3 in an Asian Pediatric Patient: A Case Report and Literature Review.
Zhang Z et al.
Journal of Inflammation Research, 2025
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.
Chen X et al.
Clinical Genetics, 2018
Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma.
Chen X et al.
Oncology Letters, 2017
A novel homozygous mutation in UNC13D presenting as Epstein-Barr-virus-associated lymphoproliferative disease at 9 years of age.
Bienemann K et al.
Leukemia & Lymphoma, 2016
Progressive neurologic disorder: Initial manifestation of hemophagocytic lymphohistiocytosis.
Murphy C et al.
Neurology, 2016
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E et al.
Journal of Medical Genetics, 2011
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.
Santoro A et al.
Journal of Medical Genetics, 2006
Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.
Marcenaro S et al.
Blood, 2006
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