An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.

NK/T-cell lymphoma (NKTCL) is the most frequent EBV-related NK/T-cell disease. Its clinical manifestations overlap with those of familial haemophagocytic lymphohistiocytosis (FHLH). Since PERFORIN (PRF1) mutations are present in FHLH, we analysed its role in a series of 12 nasal and 12 extranasal-NK...

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Autores principales: Rebeca Manso, Socorro María Rodríguez-Pinilla, Luis Lombardia, Gorka Ruiz de Garibay, Maria Del Mar López, Luis Requena, Lydia Sánchez, Margarita Sánchez-Beato, Miguel Ángel Piris
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2014
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Acceso en línea:https://doaj.org/article/a0db50eae82f451499656f139381e29d
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