Associated Papers
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Pierson CR et al.
Human Molecular Genetics, 2012
Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction.
Tsujita K et al.
The Journal of Biological Chemistry, 2004
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