Familial hypercholesterolemia in the Finnish North Karelia: A molecular, clinical, and genealogical study

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 17, Issue 11, 1997, Pages 3127-3138

  Vuorio, A F ^a   Turtola, H ^b   Piilahti, K M ^a   Repo, P ^c   Kanninen, T ^d   Kontula, K ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b NORTH KARELIA CENTRAL HOSPITAL   (Finland)

^c North Karelian Data Base   (Finland)

^d LUND UNIVERSITY   (Sweden)

Author keywords

Diagnosis; Genealogy; LDL receptor; Phenotype

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

ACUTE HEART INFARCTION; ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FINLAND; GENE MUTATION; GENEALOGY; GENETIC VARIABILITY; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0031472271     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.17.11.3127     Document Type: Article

References (9)

1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995:1981-2030.
2. Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat. 1992;1:445-466.
3. Hobbs HH, Brown MS, Russell DW, Davignon J, Goldstein JL. Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. N Eng J Med. 1987;317:734-737.
4. Lehrman MA, Schneider WJ, Brown MS, Davis CG, Elhammer A, Russell DW, Goldstein JL. The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplamic reticulum. J Biol Chem. 1987;262:401-410.
5. Leitersdorf E, Van der Westhuyzen DR, Coetzee GA, Hobbs HH. Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. J Clin Invest. 1989;84:954-961.
6. Leitersdorf E, Reshef A, Meiner V, Dann EJ, Beigel Y, Van Roggen FG, Van der Westhuyzen DR, Coetzee GA. A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. Hum Genet. 1993;91:141-147.
7. Meiner V, Landsberger D, Berkman N, Reshef A, Segal P, Seftel HC, Van der Westhuyzen DR, Jeenah MS, Coetzee GA, Leitersdorf E. A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. Am J Hum Genet. 1991;49:443-449.
8. Aalto-Setälä K, Helve E, Kovanen PT, Kontula K. Finnish type of low density lipoprotein receptor mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype. J Clin Invest. 1989;84:499-505.
9. Koivisto U-M, Turtola H, Aalto-Setälä K, Top B, Frants RR, Kovanen PT, Syvänen A-C, Kontula K. The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland. J Clin Invest. 1992;90:219-228.