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A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV

Nature Communications 5:4681 (doi: 10.1038/ncomms5681)

Authors/Editors: Chen CC
Keller M
Heß M
Schiffmann R
Urban N
Wolfgardt A
Schaefer M
Bracher F
Biel M
Wahl-Schott CA
Grimm C
Publication Date: 2014
Type of Publication: Original Papers