Mutation

Kinetic parameters

Tree Display

AceDB Schema

XML Display

Feedback

Mutation Report for: E97G_human-LIPC

E97G_human-LIPC
References:
Gene_Locus|human-LIPC
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
      Title: Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia
      Dijk W, Di Filippo M, Kooijman S, van Eenige R, Rimbert A, Caillaud A, Thedrez A, Arnaud L, Pronk A and Cariou B <12 more author(s)>
      Ref: Circulation, :, 2022 : PubMed

              




    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.
    For technical information about these pages see:
    ESTHER Home Page and ACEDB Home Page
    AcePerl Lincoln Stein Home Page
    webmaster

    Acknowledgements and disclaimer