A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child

M. Mirabelli-Badenier,M. Severino,B. Tappino,D. Tortora,F. Càmia,C. Zanaboni,F. Brera,E. Priolo,A. Rossi,R. Biancheri,M. Rocco,M. Filocamo

Published 2014 in Metabolic brain disease

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