A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

Genetic leukoencephalopathies (gLEs) are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS). The causative mutation in ~50% of gLEs is unknown. Using whole exome sequencing (WES), we identified homozygosity for a missense variant, VPS11: c.2...

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Veröffentlicht in:PLoS Genet
Hauptverfasser: Zhang, Jinglan, Lachance, Véronik, Schaffner, Adam, Li, Xianting, Fedick, Anastasia, Kaye, Lauren E., Liao, Jun, Rosenfeld, Jill, Yachelevich, Naomi, Chu, Mary-Lynn, Mitchell, Wendy G., Boles, Richard G., Moran, Ellen, Tokita, Mari, Gorman, Elizabeth, Bagley, Kaytee, Zhang, Wei, Xia, Fan, Leduc, Magalie, Yang, Yaping, Eng, Christine, Wong, Lee-Jun, Schiffmann, Raphael, Diaz, George A., Kornreich, Ruth, Thummel, Ryan, Wasserstein, Melissa, Yue, Zhenyu, Edelmann, Lisa
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2016
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4847778/
https://ncbi.nlm.nih.gov/pubmed/27120463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005848
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