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Mutation Report for: R65X_human-ABHD12

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|Nonsense Homozygous p.Arg65* c.193C>T Exon 2, Mutation found in a patient initially diagnosed with Usher syndrome type 3
    Kinetic parameters|none

      Title: Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
      Eisenberger T, Slim R, Mansour A, Nauck M, Nurnberg G, Nurnberg P, Decker C, Dafinger C, Ebermann I and Bolz H <1 more author(s)>
      Ref: Orphanet J Rare Dis, 7:59, 2012 : PubMed


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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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