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Paper Details

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
J Clin Invest
55
2019
Author NameAffiliation
Mark A TarnopolskyMcMaster Children's Hospital
Maha S ZakiClinical Genetics Department, National Research Centre
Eric W Klee
Eric W KleeCenter for Individualized Medicine, Mayo Clinic
Nara SobreiraMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Julie S CohenMoser Center for Leukodystrophies at the Kennedy Krieger Institute
Joseph G GleesonHoward Hughes Medical Institute, University of California
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Release 1.2