Associated Papers
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_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
Familial Hemophagocytic Lymphohistiocytosis Presenting as Hydrops Fetalis.
Iwatani S et al.
Ajp Reports, 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
Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.
Chia J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
[Genetic defects and pathogenesis of hemophagocytic syndrome].
Ishii E
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2006
A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis.
Ueda I et al.
International Journal of Hematology, 2006
Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.
Ueda I et al.
British Journal of Haematology, 2003
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