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Mutation Report for: E1035X_human-LIPE
Name
Class
E1035X_human-LIPE
Gene_locus
human-LIPE
Mode_of_mutation
Natural mutant
Paper
Zolotov_2017_Am.J.Med.Genet.A_173_190
Disease
Lipodystrophy, familial partial, type 6
Comment
c.3103G>T p.(Glu1035*) Homozygous in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy, increased serum creatine kinase levels, hypertriglyceridemia and low levels of high-density lipoprotein cholesterol
Send your questions or comments to :
Mail to:
Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite:
Lenfant 2013 Nucleic.Acids.Res.
or
Marchot Chatonnet 2012 Prot.Pept Lett.
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