Novel mutation in perforin gene causing familial hemophagocytic lymphohistiocytosis type 2 in an Egyptian infant: case report

Faculty Medicine Year: 2020
Type of Publication: ZU Hosted Pages:
Authors:
Eman Gamal Attia Mr. El baz
Journal: Egyptian Journal of Medical Human Genetics Springer Open Volume:
Keywords : Novel mutation , perforin gene causing familial hemophagocytic lymphohistiocytosis    
Abstract:
Our study discovered a novel frameshift mutation in PRF1 gene in an infant with HLH disease, and it is the first report of this type of mutation in Egyptian patients with this disease.
    
     
 
       

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  • Eman Gamal Attia Mr. El baz, "Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study", PAMJ - Manuscript Hut, 2020 More

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