A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
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R. Biancheri | M. Filocamo | M. Severino | D. Tortora | M. Rocco | A. Rossi | B. Tappino | C. Zanaboni | M. Mirabelli-Badenier | E. Priolo | F. Càmia | F. Brera