Mutation

Kinetic parameters

Tree Display

AceDB Schema

XML Display

Feedback

Mutation Report for: R71DfsX26_human-ABHD12

R71DfsX26_human-ABHD12
Gene_Locus|human-ABHD12
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Arg71Tyrfs*26 c.211_223del. Deletion. Homozygous mutation in two Spanish siblings
    Kinetic parameters|none


    References:
      Title: Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene
      Frasquet M, Lupo V, Chumillas MJ, Vazquez-Costa JF, Espinos C, Sevilla T
      Ref: Journal of Neurology Sci, 387:134, 2018 : 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