Associated Papers
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
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.
Benezech S et al.
Clinical Case Reports, 2017
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 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
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
Horne A et al.
British Journal of Haematology, 2008
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
Trizzino A et al.
Journal of Medical Genetics, 2008
Novel spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis in ethnic Omani patients.
Muralitharan S et al.
American Journal of Hematology, 2007
Clinical and genetic studies of familial hemophagocytic lymphohistiocytosis in Oman: need for early treatment.
Al-Lamki Z et al.
Pediatric Hematology and Oncology, 2003
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