A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
Titel:
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
Auteur:
Mirabelli-Badenier, Marisol Severino, Mariasavina Tappino, Barbara Tortora, Domenico Camia, Francesca Zanaboni, Clelia Brera, Fabia Priolo, Enrico Rossi, Andrea Biancheri, Roberta Rocco, Maja Di Filocamo, Mirella