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| Title : A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg140 to His substitution and causes LCAT-deficiency - Steyrer_1995_Hum.Genet_96_105 |
| Author(s) : Steyrer E , Haubenwallner S , Horl G , Giessauf W , Kostner GM , Zechner R |
| Ref : Hum Genet , 96 :105 , 1995 |
| Abstract : Steyrer_1995_Hum.Genet_96_105 |
| ESTHER : Steyrer_1995_Hum.Genet_96_105 |
| PubMedSearch : Steyrer_1995_Hum.Genet_96_105 |
| PubMedID: 7607641 |
| Title : A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia) - Haubenwallner_1993_Genomics_18_392 |
| Author(s) : Haubenwallner S , Horl G , Shachter NS , Presta E , Fried SK , Hofler G , Kostner GM , Breslow JL , Zechner R |
| Ref : Genomics , 18 :392 , 1993 |
| Abstract : Haubenwallner_1993_Genomics_18_392 |
| ESTHER : Haubenwallner_1993_Genomics_18_392 |
| PubMedSearch : Haubenwallner_1993_Genomics_18_392 |
| PubMedID: 8288243 |
| Gene_locus related to this paper: human-LPL |