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Mutation Report for: D208MfsX_human-LIPH

D208MfsX_human-LIPH
Gene_Locus|human-LIPH
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.624delT p.D208MfsX p.Asp208MmetfsX
    Kinetic parameters|none


    References:
      Title: Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis
      Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM
      Ref: Journal of Investigative Dermatology, 129:622, 2009 : PubMed

              




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