FABRIZIA FAUSTINELLA to Mutation
This is a "connection" page, showing publications FABRIZIA FAUSTINELLA has written about Mutation.
Connection Strength
0.053
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Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family. J Biol Chem. 1991 Aug 05; 266(22):14418-24.
Score: 0.034
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A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia. Am J Hum Genet. 1992 Jun; 50(6):1275-80.
Score: 0.009
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Structural and functional roles of highly conserved serines in human lipoprotein lipase. Evidence that serine 132 is essential for enzyme catalysis. J Biol Chem. 1991 May 25; 266(15):9481-5.
Score: 0.008
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A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency. J Lipid Res. 1992 May; 33(5):745-54.
Score: 0.002