Associated Papers
Molecular dynamics simulations of perforin mutations associated with familial hemophagocytic lymphohistiocytosis type 2 among Indian patients.
Narayan AB et al.
International Journal of Biological Macromolecules, 2025
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
40090000 (PubMed )
Supplement: BLOOD_BLD-2024-027954-mmc2.xlsx › Suppl._table_1
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.
Benezech S et al.
Clinical Case Reports, 2017
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Tesi B et al.
Genome Medicine, 2015
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.
An O et al.
Protein Science : a Publication of the Protein Society, 2013
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.
Bryceson YT et al.
Blood, 2007
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