Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II

Por Russo, Roberta, Langella, Concetta, Esposito, Maria Rosaria, Gambale, Antonella, Vitiello, Francesco, Vallefuoco, Fara, Ek, Torben, Yang, Elizabeth, Iolascon, Achille
Publicado em 2013

Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene

Por Russo, Roberta, Esposito, Maria Rosaria, Asci, Roberta, Gambale, Antonella, Perrotta, Silverio, Ramenghi, Ugo, Forni, Gian Luca, Uygun, Vedat, Delaunay, Jean, Iolascon, Achille
Publicado em 2010

Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population

Por Russo, Roberta, Gambale, Antonella, Esposito, Maria Rosaria, Serra, Maria Luisa, Troiano, Annaelena, De Maggio, Ilaria, Capasso, Mario, Luzzatto, Lucio, Delaunay, Jean, Tamary, Hannah, Iolascon, Achille
Publicado em 2011

Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia

Por Andolfo, Immacolata, Russo, Roberta, Manna, Francesco, De Rosa, Gianluca, Gambale, Antonella, Zouwail, Soha, Detta, Nicola, Pardo, Catia Lo, Alper, Seth L., Brugnara, Carlo, Sharma, Alok K., De Franceschi, Lucia, Iolascon, Achille
Publicado no Haematologica (2016)