Novel mutations of the MLC1 gene in Turkish patients
- 1 May 2011
- journal article
- Published by Elsevier BV in European Journal of Medical Genetics
- Vol. 54 (3), 281-283
- https://doi.org/10.1016/j.ejmg.2010.11.014
Abstract
No abstract availableFunding Information
- Scientific and Technological Research Council of Turkey (105S364)
This publication has 9 references indexed in Scilit:
- Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defectsHuman Molecular Genetics, 2008
- MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeetActa Neuropathologica, 2007
- Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants inMLC1Human Mutation, 2006
- Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: Leukodystrophies arising from astrocyte dysfunctionMental Retardation and Developmental Disabilities Research Reviews, 2006
- Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cystsHuman Molecular Genetics, 2004
- Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cystsHuman Genetics, 2002
- Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical CystsAmerican Journal of Human Genetics, 2001
- Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22qtelAmerican Journal of Human Genetics, 2000
- Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical courseActa Neuropathologica, 1996