Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

A. Duarri, O. Teijido, T. Lopez-Hernandez, G.C. Scheper, H. Barriere, P.K.I. Boor, F. Aguado, A. Zorzano, M. Palacin, A Martinez, G.L. Lukacs, M.S. van der Knaap, V. Nunes, R. Estevez

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)3728-3739
JournalHuman Molecular Genetics
Volume17
Issue number23
DOIs
Publication statusPublished - 2008

Cite this

Duarri, A., Teijido, O., Lopez-Hernandez, T., Scheper, G. C., Barriere, H., Boor, P. K. I., ... Estevez, R. (2008). Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. Human Molecular Genetics, 17(23), 3728-3739. https://doi.org/10.1093/hmg/ddn269