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Familial Hemophagocytic Lymphohistiocytosis with A665G Perforin Gene Mutation: A Case Report

Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disease. Presentation of the disease such as primarily fever, hepatosplenomegaly, and cytopenia, which are the results of functional degradation in cytotoxic T-lymphocytes and natural killer cells, activation of macroph...

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Detalles Bibliográficos
Autores principales: Yenicesu, İdil, Geneviève, De Saint Basile, Emeksiz, Hamdi Cihan, Dalgıç, Buket
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3986752/
https://www.ncbi.nlm.nih.gov/pubmed/24744671
http://dx.doi.org/10.5505/tjh.2012.62134