Functional characterization of MODY2 mutations highlights the importance of the fine-tuning of glucokinase and its role in glucose sensing.

by Carmen-María García-Herrero, Oscar Rubio-Cabezas, Sharona Azriel, Angel Gutierrez-Nogués, Angel Aragonés, Olivier Vincent, Angel Campos-Barros, Jesús Argente, María-Angeles Navas
Published 2012-01-01

Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia

by Alejandro García-Castaño, Leire Madariaga, Sharona Azriel, Gustavo Pérez de Nanclares, Idoia Martínez de LaPiscina, Rosa Martínez, Inés Urrutia, Aníbal Aguayo, Sonia Gaztambide, Luis Castaño
Published 2018-12-01