Impact of MIF Gene Promoter Polymorphism on F508del Cystic Fibrosis Patients

por Melotti, Paola, Mafficini, Andrea, Lebecque, Patrick, Ortombina, Myriam, Leal, Teresinha, Pintani, Emily, Pepermans, Xavier, Sorio, Claudio, Assael, Baroukh Maurice
Publicado 2014

The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

por Ka, Chandran, Guellec, Julie, Pepermans, Xavier, Kannengiesser, Caroline, Ged, Cécile, Wuyts, Wim, Cassiman, David, de Ledinghen, Victor, Varet, Bruno, de Kerguenec, Caroline, Oudin, Claire, Gourlaouen, Isabelle, Lefebvre, Thibaud, Férec, Claude, Callebaut, Isabelle, Le Gac, Gérald
Publicado 2018