Spectrum of Perforin Gene Mutations in Familial Hemophagocytic Lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease of early childhood characterized by nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes (macrophages). Cytotoxic T and natural killer (NK) cell activity is markedly red...

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Autors principals: Göransdotter Ericson, Kim, Fadeel, Bengt, Nilsson-Ardnor, Sofie, Söderhäll, Cilla, Samuelsson, AnnaCarin, Janka, Gritta, Schneider, Marion, Gürgey, Aytemiz, Yalman, Nevin, Révész, Tom, Egeler, R. Maarten, Jahnukainen, Kirsi, Storm-Mathiesen, Ingebjörg, Haraldsson, Ásgeir, Poole, Janet, de Saint Basile, Geneviève, Nordenskjöld, Magnus, Henter, Jan-Inge
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2001
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274472/
https://ncbi.nlm.nih.gov/pubmed/11179007
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