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Delmonte, Ottavia

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Delmonte

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Ottavia

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Delmonte, Ottavia

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Author's Publications: search.filters.isAuthorOfPublication.77c01864-b26a-4608-b47c-f9486875816fAuthor: search.filters.author.Delmonte, OttaviaHas files: Yes

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    A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

    (The Rockefeller University Press, 2012) Lanzi, Gaetana; Moratto, Daniele; Vairo, Donatella; Masneri, Stefania; Delmonte, Ottavia; Paganini, Tiziana; Parolini, Silvia; Tabellini, Giovanna; Mazza, Cinzia; Savoldi, Gianfranco; Montin, Davide; Martino, Silvana; Tovo, Pierangelo; Pessach, Itai M.; Massaad, Michel; Ramesh, Narayanaswamy; Porta, Fulvio; Plebani, Alessandro; Notarangelo, Luigi; Geha, Raif; Giliani, Silvia

    A homozygous mutation that gave rise to a stop codon in the WIPF1 gene resulted in WASP protein destabilization and in symptoms resembling those of Wiskott-Aldrich syndrome