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Mutation Report for: Q262X_human-LPL

Q262X_human-LPL
Gene_Locus|human-LPL
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Q262X Gln262X c.784C>T (p.Q235X Gln235X in the mature protein) found in a compound heterozygote with R270H
    Kinetic parameters|none


    References:
      Title: Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride
      Buonuomo PS, Rabacchi C, Macchiaiolo M, Trenti C, Fasano T, Tarugi P, Bartuli A, Bertolini S, Calandra S
      Ref: J Clin Lipidol, 11:1329, 2017 : PubMed

              

      Title: Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease
      Khera AV, Won HH, Peloso GM, O'Dushlaine C, Liu D, Stitziel NO, Natarajan P, Nomura A, Emdin CA and Kathiresan S <34 more author(s)>
      Ref: Jama, 317:937, 2017 : PubMed

              




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