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Mutation Report for: D229GfsX22_human-LIPH

D229GfsX22_human-LIPH
Gene_Locus|human-LIPH
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.686delAins18 p.D229GfsX22 p.Asp229GlyfsX22
    Kinetic parameters|none


    References:
      Title: Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis
      Ito T, Shimomura Y, Hayashi R, Tokura Y
      Ref: J Dermatol, 42:752, 2015 : PubMed

              




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