Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. - Sun M; Goldin E; Stahl S; Falardeau JL; Kennedy JC; Acierno JS Jr; Bove C; Kaneski CR; Nagle J; Bromley MC; Colman M; Schiffmann R; et al. (Human molecular genetics, 2000)