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1 An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor
article 1993    
Author: Lombardi, P. · Hoffer, M.J.V. · Top, B. · Wit, E. de · Gevers Leuven, J.A. · Frants, R.R. · Havekes, L.M.
Keywords: Denaturating gradient gel electrophoresis · Polymerase chain reaction · Complementary dna · Low density lipoprotein receptor · Case report · Dna sequence · Familial hypercholesterolemia · Gel electrophoresis · Mutation · Pedigree analysis · Polymerase chain reaction · Adult · Amino Acid Sequence · Base Sequence · Cells, Cultured · Electrophoresis · Female · Homozygote · Human · Hypercholesterolemia, Familial · Introns · Molecular Sequence Data · Pedigree · Point Mutation · Reading Frames · Receptors, LDL · RNA Splicing · Sequence Analysis, DNA · Support, Non-U.S. Gov't
[Abstract]

2 The lipoprotein lipase (Asn291 → Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia
article 1996    
Author: Hoffer, M.J.V. · Bredie, S.J.H. · Boomsma, D.I. · Reymer, P.W.A. · Kastelein, J.J.P. · Knijff, P. de · Demacker, P.N.M. · Stalenhoef, A.F.H. · Havekes, L.M. · Frants, R.R.
Keywords: Biology · Cholesterol · Familial combined hyperlipidaemia · Lipoprotein lipase · LPL(Asn291→ Ser) mutation · Triglycerides · cholesterol · high density lipoprotein cholesterol · lipoprotein lipase · low density lipoprotein cholesterol · triacylglycerol · very low density lipoprotein · adult · article · controlled study · coronary artery atherosclerosis · enzyme activity · familial hyperlipemia · gene mutation · genetic predisposition · human · major clinical study · male · pedigree analysis · priority journal · Base Sequence · Cholesterol · Coronary Disease · Female · Gene Frequency · Genetic Predisposition to Disease · Heterozygote · Humans · Hyperlipidemia, Familial Combined · Lipids · Lipoprotein Lipase · Male · Molecular Sequence Data · Netherlands · Pedigree · Point Mutation · Prevalence · Risk Factors · Triglycerides
[Abstract]

Search results also available in MS Excel format.

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