Haubenwallner S

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 :

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 :

PubMedSearch : Haubenwallner_1993_Genomics_18_392

PubMedID: 8288243

Gene_locus related to this paper: human-LPL

Haubenwallner S

References (2)

1. 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

2. 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