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]-Reference-Cited by-同舟云学术

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]

Published:1999-09 Issue:1 Volume:146 Page:125-131
ISSN:0021-9150
Container-title:Atherosclerosis
language:en
Short-container-title:Atherosclerosis

Author:

Yu Lu,Heere-Ress Elisabeth,Boucher Betsie,Defesche Joep C.,Kastelein John,Lavoie Marc-André,Genest Jr Jacques

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference20 articles.

1. Familial hypercholesterolemia;Goldstein,1989

2. Mutations of low-density-lipoprotein-receptor gene, variations in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia;Moorjani;Lancet,1993

3. Familial lipoprotein disorders in patients with premature coronary artery disease;Genest Jr;Circulation,1992

4. Plasma lipoproteins, apolipoprotein B, apolipoprotein E phenotypes and metabolic factors in premature CAD in French Canadians;Weber;Can J Cardiol,1997

5. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia;Hobbs;Human Mutation,1992

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