The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein

Research output: Contribution to journalArticlepeer-review

605 Scopus citations
Original languageEnglish (US)
Pages (from-to)133-170
Number of pages38
JournalAnnual review of genetics
Issue number1
StatePublished - 1990


  • Alu elements - Repetitive elements
  • Cholesterol metabolism
  • Exon shuffling
  • Human biochemical genetics
  • LDL receptor mutations
  • Lipoprotein receptors
  • Recombination

ASJC Scopus subject areas

  • Genetics

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