Výsledky vyhledávání - "María Gabriela Simesen de Bielke"

A Missense Mutation in the Extracellular Domain of Fas: The Most Common Change in Argentinean Patients with Autoimmune Lymphoproliferative Syndrome Represents a Founder Effect

Autor: Judith Yancoski, Claudio Cantisano, Carlos Rocco, Silvia Danielian, María Gabriela Simesen de Bielke, Matías Oleastro, Néstor Pérez, Laura E. Pérez

Publikováno v: Journal of Clinical Immunology. 32:1197-1203

Mutations in the Fas gene (TNFRSF6) are the most common causes of Autoimmune Lymphoproliferative Syndrome (ALPS-FAS). In Argentina almost a third of patients with ALPS-FAS present a missense mutation affecting the extracellular cysteine rich domain 2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c6759a1baa8d7eaf30d975b84cc88c2
https://doi.org/10.1007/s10875-012-9731-y

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