Atherosclerosis
Volume 146, Issue 1 , Pages 125-131 , September 1999

Familial hypercholesterolemia. Acceptor splice site (G→C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-RHonduras-1 [LDL-R1061(−1) G→C]

  • Lu Yu

      Affiliations

    • Cardiovascular Genetics Laboratory, Clinical Research Institute of Montréal, Montréal, Québec, Canada H2W 1R7
    • ,
  • Elisabeth Heere-Ress

      Affiliations

    • Department of Clinical Pharmacology, University of Vienna, Vienna, Austria
    • ,
  • Betsie Boucher

      Affiliations

    • Cardiovascular Genetics Laboratory, Clinical Research Institute of Montréal, Montréal, Québec, Canada H2W 1R7
    • ,
  • Joep C. Defesche

      Affiliations

    • Department of Vascular Medicine, Academisch Medisch Centrum, Universiteit van Amsterdam, Amsterdam, The Netherlands
    • ,
  • John Kastelein

      Affiliations

    • Department of Vascular Medicine, Academisch Medisch Centrum, Universiteit van Amsterdam, Amsterdam, The Netherlands
    • ,
  • Marc-André Lavoie

      Affiliations

    • Montréal Heart Institute, Montréal, Québec, Canada
    • ,
  • Jacques Genest Jr

      Affiliations

    • Cardiovascular Genetics Laboratory, Clinical Research Institute of Montréal, Montréal, Québec, Canada H2W 1R7
    • Cardiology Services, Centre Hospitalier de l’Université de Montréal Montréal, Québec, Canada
    • Corresponding Author InformationCorresponding author. Tel.: +1-514-9875715; fax: +1-514-9875767

Received 31 December 1998 ,Revised 26 February 1999 ,Accepted 9 March 1999.

References 

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  2. Moorjani S, Roy M, Torres A, Betard C, Gagne C, Lambert M, et al. Mutations of low-density-lipoprotein-receptor gene, variations in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia. Lancet. 1993;341:1303–1306
  3. Genest Jr J, Martin-Munley SR, McNamara JR, Ordovas JM, Jenner J, Meyers RH, et al. Familial lipoprotein disorders in patients with premature coronary artery disease. Circulation. 1992;85:2025–2033
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  17. Lombardi P, Hoffer MJV, Top B, de Wit E, Gevers Leuven JA, Frants RR, et al. An acceptor splice site mutation in intron 16 of the low density lipoprotein leads to an elongated, internalization defective receptor. Atheroscler. 1993;104:117–128
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  20. www.ucl.ac.uk/fh/.

PII: S0021-9150(99)00109-4

Atherosclerosis
Volume 146, Issue 1 , Pages 125-131 , September 1999

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