Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene

K. Solberg, O. K. Rødningen, S. Tonstad, L. Ose, T. P. Leren

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)605-609
Number of pages5
JournalScandinavian Journal of Clinical and Laboratory Investigation
Volume54
Issue number8
DOIs
StatePublished - 1994

ASJC Scopus Subject Areas

  • Clinical Biochemistry

Keywords

  • Cholesterol
  • DNA sequencing
  • Familial hypercholesterolaemia
  • Low density lipoprotein receptor
  • Mutation
  • Single-strand conformation polymorphisms

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