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Mutation Report for: c.128+4A>G_human-SERAC1

c.128+4A>G_human-SERAC1
Gene_Locus|human-SERAC1
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.128+4A>G mutation alter intron
    Kinetic parameters|none


    References:
      Title: Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1
      Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H
      Ref: American Journal of Medicine Genet A, 161A:2204, 2013 : PubMed

              




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