TY  - GEN
AU  - Mirabelli-Badenier,Marisol
AU  - Severino,Mariasavina
AU  - Tappino,Barbara
AU  - Tortora,Domenico
AU  - Camia,Francesca
AU  - Zanaboni,Clelia
AU  - Brera,Fabia
AU  - Priolo,Enrico
AU  - Rossi,Andrea
AU  - Biancheri,Roberta
AU  - Di Rocco,Maja
AU  - Filocamo,Mirella
TI  - A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
SN  - 1573-7365
PY  - 2016///0401
KW  - Alleles
KW  - Child, Preschool
KW  - Homozygote
KW  - Humans
KW  - Italy
KW  - Male
KW  - Mucolipidoses
KW  - diagnosis
KW  - Mutation
KW  - genetics
KW  - Transient Receptor Potential Channels
KW  - deficiency
KW  - White People
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s11011-014-9612-6
ER  -