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Perforin gene mutations in patients with acquired aplastic anemia

Perforin is a cytolytic protein expressed mainly in activated cytotoxic lymphocytes and natural killer cells. Inherited perforin mutations account for 20% to 40% of familial hemophagocytic lymphohistiocytosis, a fatal disease of early childhood characterized by the absence of functional perforin. Ap...

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Detalhes bibliográficos
Main Authors: Solomou, Elena E., Gibellini, Federica, Stewart, Brian, Malide, Daniela, Berg, Maria, Visconte, Valeria, Green, Spencer, Childs, Richard, Chanock, Stephen J., Young, Neal S.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1890825/
https://ncbi.nlm.nih.gov/pubmed/17311987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2006-12-063495
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