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Mutation Report for: H205R_human-LIPH

H205R_human-LIPH
Gene_Locus|human-LIPH
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.614A>G (p.His205Arg, H205R)
    Kinetic parameters|none


    References:
      Title: Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT)
      Chang XD, Gu YJ, Dai S, Chen XR, Zhang CL, Zhao HS, Song QH
      Ref: Mutagenesis, 32:599, 2017 : PubMed

              




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