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Mutation Report for: W75R_human-LCAT

W75R_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.295T>C Exon 2 Phenotype (LCATD)
    Kinetic parameters|none


    References:
      Title: Molecular characterization of two patients with severe LCAT deficiency
      Charlton-Menys V, Pisciotta L, Durrington PN, Neary R, Short CD, Calabresi L, Calandra S, Bertolini S
      Ref: Nephrol Dial Transplant, 22:2379, 2007 : PubMed

              




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