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Mutation Report for: I300X_human-ABHD5

I300X_human-ABHD5
Gene_Locus|human-ABHD5
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.I300X Ile300Ter c.898_*320del 1058 bp deletion that removed 63bp of exon 6, intron 7 and exon 7
    Kinetic parameters|none


    References:
      Title: Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene
      Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D
      Ref: Orphanet J Rare Dis, 5:33, 2010 : PubMed

              




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