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Mutation Report for: E1035X_human-LIPE

Name Class
E1035X_human-LIPEGene_locushuman-LIPE
Mode_of_mutationNatural mutant
PaperZolotov_2017_Am.J.Med.Genet.A_173_190
DiseaseLipodystrophy, familial partial, type 6
Commentc.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

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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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