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Variations of the UNC13D Gene in Patients with Autoimmune Lymphoproliferative Syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defects decreasing Fas function and is characterized by lymphadenopathy/splenomegaly and expansion of CD4/CD8 double-negative T cells. This latter expansion is absent in the ALPS variant named Dianzani Autoimmune/lymphoproliferative...

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Detalles Bibliográficos
Autores principales: Aricò, Maurizio, Boggio, Elena, Cetica, Valentina, Melensi, Matteo, Orilieri, Elisabetta, Clemente, Nausicaa, Cappellano, Giuseppe, Buttini, Sara, Soluri, Maria Felicia, Comi, Cristoforo, Dufour, Carlo, Pende, Daniela, Dianzani, Irma, Ellis, Steven R., Pagliano, Sara, Marcenaro, Stefania, Ramenghi, Ugo, Chiocchetti, Annalisa, Dianzani, Umberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698121/
https://www.ncbi.nlm.nih.gov/pubmed/23840885
http://dx.doi.org/10.1371/journal.pone.0068045