Report for Ulmanen I

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References (2)

Title : Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency - Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460

Author(s) : Miettinen H , Gylling H , Ulmanen I , Miettinen TA , Kontula K

Ref : Arterioscler Thromb Vasc Biol , 15 :460 , 1995

Abstract : Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460

ESTHER : Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460

PubMedSearch : Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460

PubMedID: 7749857

Gene_locus related to this paper: human-LCAT

Title : A novel amino acid substitution (His183-->\;Gln) in exon 5 of the lipoprotein lipase gene results in loss of catalytic activity: phenotypic expression of the mutant gene in a heterozygous state - Tenkanen_1994_J.Lipid.Res_35_220

Author(s) : Tenkanen H , Taskinen MR , Antikainen M , Ulmanen I , Kontula K , Ehnholm C

Ref : J Lipid Res , 35 :220 , 1994

Abstract : Tenkanen_1994_J.Lipid.Res_35_220

ESTHER : Tenkanen_1994_J.Lipid.Res_35_220

PubMedSearch : Tenkanen_1994_J.Lipid.Res_35_220

PubMedID: 8169525

Report for Ulmanen I

General

References (2)

1. Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency

2. A novel amino acid substitution (His183-->\;Gln) in exon 5 of the lipoprotein lipase gene results in loss of catalytic activity: phenotypic expression of the mutant gene in a heterozygous state