Læknablaðið - 15.06.2001, Síða 18

FRÆÐIGREINAR / HJARTASJÚKDÓMAR
genetic locus. Cell 1976; 9:195-203.
3. Goldstein JL, Hobbs HH, Brown MS. Familial
Hypercholesterolemia. In: Scriver C, ed. The Metabolic Bases
of Inherited Diseases. 7th ed. New York: McGraw-Hill
Companies; 1994:1981-2029.
4. Goldstein JL, Schrott HG, Hazzard WR, Bierman EL,
Motulsky AG. Hyperlipidemia in coronary heart disease. II.
Genetic analysis of lipid levels in 176 families and delineation
of a new inherited disorder, combined hyperlipidemia. J Clin
Invest 1973; 52:1544-68.
5. Mabuchi H, Miyamoto S, Ueda K, Oota M, Takegoshi T,
Wakasugi T, et al. Causes of death in patients with familial
hypercholesterolemia. Atherosclerosis 1986; 61:1-6.
6. Slack J. Risks of ischaemic heart-disease in familial
hyperlipoproteinaemic states. Lancet 1969; 2:1380-2.
7. Jensen J, Blankenhorn DH, Kornerup V. Coronary disease in
familial hypercholesterolemia. Circulation 1967; 36: 77-82.
8. Heiberg A. The risk of atherosclerotic vascular disease in
subjects with xanthomatosis. Acta Med Scand 1975; 198: 249-
61.
9. Stone NJ, Levy RI, Fredrickson DS, Verter J. Coronary artery
disease in 116 kindred with familial type II
hyperlipoproteinemia. Circulation 1974; 49:476-88.
10. Beaumont V, Jacotot B, Beaumont JL. Ischaemic disease in
men and women with familial hypercholesterolaemia and
xanthomatosis. A comparative study of genetic and
environmental factors in 274 heterozygous cases.
Atherosclerosis 1976; 24: 441-50.
11. Risk of fatal coronary heart disease in familial
hypercholesterolaemia. Scientific Steering Committee on
behalf of the Simon Broome Register Group. BMJ 1991; 303:
893-6.
12. Mortality in treated heterozygous familial
hypercholesterolaemia: implications for clinical management.
Scientific Steering Committee on behalf of the Simon Broome
Register Group. Atherosclerosis 1999; 142:105-12.
13. Williams RR, Schumacher MC, Barlow GK, Hunt SC, Ware
JL, Pratt M, et al. Documented need for more effective
diagnosis and treatment of familial hypercholesterolemia
according to data from 502 heterozygotes in Utah. Am J
Cardiol 1993; 72:18D-24D.
14. Havel RJ, Hunninghake DB, Illingworth DR, Lees RS, Stein
EA, Tobert JA, et al. Lovastatin (mevinolin) in the treatment
of heterozygous familial hypercholesterolemia. A multicenter
study. Ann Intern Med 1987; 107: 609-15.
15. Kane JP, Malloy MJ, Ports TA, Phillips NR, Diehl JC, Havel
RJ. Regression of coronary atherosclerosis during treatment
of familial hypercholesterolemia with combined drug
regimens. JAMA 1990; 264: 3007-12.
16. Randomised trial of cholesterol lowering in 4444 patients with
coronary heart disease: The Scandinavian Simvastatin
Survival Study (4S). Lancet 1994; 344:1383-9.
17. Shepherd J, Cobbe SM, Ford I, Isles CG, Lorimer AR,
MacFarlane PW, et al. Prevention of coronary heart disease
with pravastatin in men with hypercholesterolemia. West of
Scotland Coronary Prevention Study Group. N Engl J Med
1995; 333:1301-7.
18. The Iow density lipoprotein receptor (LDLR) gene in familial
hypercholesterolemia. http://www.ucl.ac.uk/fh/
19. Gudnason V, Sigurdsson G, Nissen H, Humphries SE.
Common founder mutation in the LDL receptor gene causing
familial hypercholesterolaemia in the Icelandic population.
Hum Mutat 1997; 10: 36-44.
20. Taylor R, Bryant J, Gudnason V, Sigurdsson G, Humphries S.
A study of familial hypercholesterolaemia in Iceland using
RFLPs. J Med Genet 1989; 26: 494-8.
21. Kotze MJ, De Villiers WJ, Steyn K, Kriek JA, Marais AD,
Langenhoven E, et al. Phenotypic variation among familial
hypercholesterolemics heterozygous for either one of two
Afrikaner founder LDL receptor mutations. Arterioscler
Thromb 1993; 13:1460-8.
22. Hunt SC, Hopkins PN, Bulka K, McDermott MT, Thorne TL,
Wardell BB, et al. Genetic localization to chromosome lp32 of
the third locus for familial hypercholesterolemia in a Utah
kindred. Arterioscler Thromb Vasc Biol 2000; 20:1089-93.
23. Guðnason V, Sigurðsson G, Humphries S. Notkun ensím-
hvattrar fjölföldunar á DNA til að skima eftir erfðagalla í
apóprótíni-B í íslenskum fjölskyldum med hátt kólesteról í
sermi. Læknablaðið 1990; 76: 431-6.
518 Læknablaðið 2001/87