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]

« Previous Next »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-R_Honduras-1 [LDL-R_{1061(−1) G→C}]

Lu Yu
- Cardiovascular Genetics Laboratory, Clinical Research Institute of Montréal, Montréal, Québec, Canada H2W 1R7
Elisabeth Heere-Ress
- Department of Clinical Pharmacology, University of Vienna, Vienna, Austria
Betsie Boucher
- Cardiovascular Genetics Laboratory, Clinical Research Institute of Montréal, Montréal, Québec, Canada H2W 1R7
Joep C. Defesche
- Department of Vascular Medicine, Academisch Medisch Centrum, Universiteit van Amsterdam, Amsterdam, The Netherlands
John Kastelein
- Department of Vascular Medicine, Academisch Medisch Centrum, Universiteit van Amsterdam, Amsterdam, The Netherlands
Marc-André Lavoie
- Montréal Heart Institute, Montréal, Québec, Canada
Jacques Genest Jr
- 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. Tel.: +1-514-9875715; fax: +1-514-9875767