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Mutation Report for: R276H_human-LCAT

R276H_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.899G>A, Exon 6, phenotype unclassified
    Kinetic parameters|none


    References:
      Title: Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease
      Calabresi L, Simonelli S, Gomaraschi M, Franceschini G
      Ref: Atherosclerosis, 222:299, 2012 : PubMed

              




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