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Mutation Report for: Y250D_human-ABHD5

Y250D_human-ABHD5
Gene_Locus|human-ABHD5
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Tyr250Asp c.748T>G (NM_001355186.2) homozygous missense mutation in a10 year old boy was presented with diffuse erythema and fine scaling of the body, mimicking autosomal congenital recessive ichthyosis
    Kinetic parameters|none


    References:
      Title: Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene
      Al-Hage J, Abbas O, Nemer G, Kurban M
      Ref: Clinical & Experimental Dermatologyatol, 45:257, 2020 : PubMed

              




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