Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia

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Original languageEnglish
JournalHuman Mutation
Issue number2
Pages (from-to)102-13
Number of pages12
Publication statusPublished - 1994

    Research areas

  • Adult, Base Sequence, Female, Glutamic Acid, Humans, Hyperlipoproteinemia Type II, Lysine, Male, Middle Aged, Molecular Sequence Data, Mutagenesis, Site-Directed, Pedigree, Point Mutation, Polymerase Chain Reaction, Receptors, LDL, Journal Article, Research Support, Non-U.S. Gov't

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ID: 103466658