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Mutation Report for: H82R_human-ABHD5

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|p.H82R His82Arg c.245A>G. A 42-year old patient with muscle weakness genital ichthyosiform erythroderma hearing loss bilateral subcapsular cataract. Compound heterozygote for p.H82R and p.R234X
    Kinetic parameters|none

      Title: Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease
      Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF
      Ref: Arch Dermatol, 141:798, 2005 : PubMed


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