Kinetic parameters

Tree Display

AceDB Schema

XML Display


Mutation Report for: 3repeatVNTR_human-CEL

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Comment|In a family 7 patients showed only 3 repeats in the VNTR instead of the 7 to 23 repeats found in healthy subjects
Kinetic parameters|none

    Title: Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes
    Torsvik J, Johansson S, Johansen A, Ek J, Minton J, Raeder H, Ellard S, Hattersley A, Pedersen O and Njolstad PR <2 more author(s)>
    Ref: Hum Genet, 127:55, 2010 : PubMed


    Title: Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.
    Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L and Njolstad PR <6 more author(s)>
    Ref: Nat Genet, 38:54, 2006 : 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

Acknowledgements and disclaimer