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1 Mutaties in het LDL-receptor gen in familiaire hypercholesterolemie
bookPart 1988    
Author: Top, B. · Frants, R.R. · Gevers Leuven, J.A. · Havekes, L.
Keywords: Health · Thrombosis

2 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]

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