Associated Papers
A Challenging Diagnosis of Hemophagocytic Lymphohistiocytosis with Unusual Pulmonary Manifestations: A Case Report.
Carducci C et al.
The Open Respiratory Medicine Journal, 2025
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
36007526 (PubMed )
Supplement: mmc2.xlsx › Table_S8
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Next-generation sequencing in familial breast cancer patients from Lebanon.
Jalkh N et al.
Bmc Medical Genomics, 2017
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
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
Zur Stadt U et al.
Human Mutation, 2006
Atypical features of familial hemophagocytic lymphohistiocytosis.
Busiello R et al.
Blood, 2004
Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.
Molleran Lee S et al.
Journal of Medical Genetics, 2004
Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.
Ueda I et al.
British Journal of Haematology, 2003
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.
Feldmann J et al.
British Journal of Haematology, 2002
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