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Human Molecular Genetics|October 13, 2000
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channelM Sun, E Goldin, S Stahl, et al.
Neurology|August 17, 2002
The neurogenetics of mucolipidosis type IVG Altarescu, M Sun, D F Moore, et al.
Genomics|April 25, 2001
A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2J S Acierno, J C Kennedy, J L Falardeau, et al.
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