A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
Crossref DOI link: https://doi.org/10.1007/s11011-014-9612-6
Published Online: 2014-08-26
Published Print: 2015-06
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Mirabelli-Badenier, Marisol
Severino, Mariasavina
Tappino, Barbara
Tortora, Domenico
Camia, Francesca
Zanaboni, Clelia
Brera, Fabia
Priolo, Enrico
Rossi, Andrea
Biancheri, Roberta
Di Rocco, Maja
Filocamo, Mirella
Text and Data Mining valid from 2014-08-26