Loss-of-function mutation in thiamine transporter 1 in a family with autosomal dominant diabetes

بواسطة Prapaporn Jungtrakoon, Jun Shirakawa, Patinut Buranasupkajorn, Manoj K. Gupta, Dario F. De Jesus, Marcus G. Pezzolesi, Aussara Panya, Timothy Hastings, Chutima Chanprasert, Christine Mendonca, Rohit N. Kulkarni, Alessandro Doria
منشور في 2020

Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia

بواسطة Prapaporn Jungtrakoon Thamtarana, Antonella Marucci, Luca Pannone, Amélie Bonnefond, Serena Pezzilli, Tommaso Biagini, Patinut Buranasupkajorn, Timothy Hastings, Christine Mendonca, Lorella Marselli, Rosa Di Paola, Zuroida Abubakar, Luana Mercuri, Federica Alberico, Elisabetta Flex, Julian Ceròn, Montserrat Porta-De-La-Riva, Ornella Ludovico, Massimo Carella, Simone Martinelli, Piero Marchetti, Tommaso Mazza, Philippe Froguel, Vincenzo Trischitta, Alessandro Doria, Sabrina Prudente
منشور في 2022