Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia

The Lancet

Volumn 341, Issue 8856, 1993, Pages 1303-1306

  Moorjani, S ^a   Torres, A ^a   Gagn, C ^a   Brun, D ^a   Lupien, P ^a   Roy, M ^b   Betard C ^b   Davignon, J ^b   Lambert, M ^c  

^a UNIVERSITÉ LAVAL   (Canada)

^b CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CORONARY ARTERY DISEASE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE EXPRESSION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MUTATION; PLASMA; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHOLESTEROL; CORONARY DISEASE; EXONS; FEMALE; GENE DELETION; HOMOZYGOTE; HUMAN; HYPERCHOLESTEROLEMIA, FAMILIAL; LIPOPROTEINS, LDL; MALE; MUTATION; PROMOTER REGIONS (GENETICS); SUPPORT, NON-U.S. GOV'T;

EID: 0027323004     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/0140-6736(93)90815-X     Document Type: Article

References (15)

1. Familial hypercholesterolemia
2. The Lebanese allele at the low density lipoprotein receptor locus
3. Homozygous familial hypercholesterolemia among French Canadians in Québec province
4. Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners
5. A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews
6. Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians
7. A receptor-mediated pathway for cholesterol homeostasis
8. Genotypic and phenotypic variation in familial hypercholesterolemia
9. Identification of a second French Canadian LDL receptor gene deletion and development of a rapid method to detect both deletions
10. Common low density lipoprotein receptor mutations in the French Canadian population
11. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein
12. The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia
13. Clinical features of familial hypercholesterolemia
14. The LDL receptor defect in familial hypercholesterolemia: implications for pathogenesis and therapy