A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site

por Salas, Pilar Carrasco, Rosales, José Miguel Lezana, Milla, Carmen Palma, Montiel, Javier López, Siles, Juan López
Publicado 2015

New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s disease

por Ondrejkovičová, Mária, Dražilová, Sylvia, Drakulová, Monika, Siles, Juan López, Zemjarová Mezenská, Renáta, Jungová, Petra, Fabián, Martin, Rychlý, Boris, Žigrai, Miroslav
Publicado 2020