Contribution of rare copy number variants to isolated human malformations.

by Clara Serra-Juhé, Benjamín Rodríguez-Santiago, Ivon Cuscó, Teresa Vendrell, Núria Camats, Núria Torán, Luis A Pérez-Jurado
Published 2012-01-01

A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding.

by Susana Granell, Clara Serra-Juhé, Gabriel Á Martos-Moreno, Francisca Díaz, Luis A Pérez-Jurado, Giulia Baldini, Jesús Argente
Published 2012-01-01

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants.

by Clara Serra-Juhé, Gabriel Á Martos-Moreno, Francesc Bou de Pieri, Raquel Flores, Juan R González, Benjamín Rodríguez-Santiago, Jesús Argente, Luis A Pérez-Jurado
Published 2017-05-01