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Delmonte, Ottavia
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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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search.filters.author.Delmonte, Ottavia
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search.filters.author.Geha, Raif
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search.filters.author.Giliani, Silvia
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search.filters.author.Lanzi, Gaetana
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search.filters.author.Martino, Silvana
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2012
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Author's Publications: search.filters.isAuthorOfPublication.77c01864-b26a-4608-b47c-f9486875816f
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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
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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
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