Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary

Atherosclerosis

Volumn 154, Issue 1, 2001, Pages 247-251

  Kalina, Ákos ^a   Császár, Albert ^b   Czeizel, Andrew E ^c   Romics, László ^d   Szabóki, Ferenc ^a   Szalai, Csaba ^e   Reiber, István ^f   Németh, Attila ^b   Stephenson, Susan ^g   Williams, Roger R ^g  

^a MAV Hospital   (Hungary)

^b Haynal Imre Medical University   (Hungary)

^c National Institute of Public Health Budapest   (Hungary)

^d SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

^e HEIM PÁL CHILDREN S HOSPITAL   (Hungary)

^f Szent Gyorgy Hospital   (Hungary)

^g UNIVERSITY OF UTAH   (United States)

Author keywords

Coronary heart diseases; Familial defective apoB 100; Familial hypercholesterolemia

Indexed keywords

APOLIPOPROTEIN B100;

ADULT; ALLELE; ARTICLE; CARDIOVASCULAR DISEASE; CHOLESTEROL BLOOD LEVEL; DIAGNOSTIC ACCURACY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE FREQUENCY; GENE MUTATION; HEALTH SURVEY; HUMAN; HUNGARY; HYPERLIPIDEMIA; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; APOLIPOPROTEIN B-100; APOLIPOPROTEINS B; FEMALE; GENE FREQUENCY; GENETIC SCREENING; HUMANS; HUNGARY; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION;

EID: 0035189334     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(00)00648-1     Document Type: Article

References (29)

1. Plasma lipoproteins: Micellar models and mutants
2. Euphenic prevention of coronary artery disease
3. Familial defective apolipoprotein B-100 and myocardial infarction. The ECTIM study
4. Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B-100
5. An arginine 3500 glutamine mutation in familial defective apoB-100 subjects with LDL defective in binding to the apoB,E (LDL) receptor
6. Characteristics of 46 heterozygous carriers and 57 unaffected relatives in five Danish families with familial defective apolipoprotein B-100
7. A simple salting out procedure for extracting DNA from human nucleotide cells
8. Allele-specific and asymmetric polymerase chain reaction amplification in combination: A one step polymerase chain reaction protocol for rapid diagnosis of familial defective apolipoprotein B-100
9. In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia
10. Familial defective apolipoprotein B-100: Low density lipoprotein with abnormal receptor binding
11. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100
12. Rapid testing for three mutations causing familial defective apolipoprotein B100 in 562 patients with familial hypercholesterolaemia
13. Variable expression of the mutation in familial defective apolipoprotein B-100
14. A unique haplotype of the apolipoprotein B-100 allele associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study of the prevalence of the disorder
15. Familial defective apolipoprotein B-100: A common cause of primary hypercholesterolemia
16. Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol
17. Absence of familial defective apolipoprotein B-100 in Israeli patients with dominantly inherited hypercholesterolemia and in offspring with parental history of myocardial infarction
18. Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia
19. Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia
20. Is there a Finno-Ugrian suicide gene?
21. Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich
22. Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries
23. Accumulation of 'small dense' low density lipoprotein (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results from heterogeneous interaction of LDL sub-fractions with the LDL receptor
24. Homozygous familial defective apolipoprotein B-100. Enhanced removal of apolipoprotein E containing VLDLs and decreased production of LDLs
25. Decreased resistance against in vitro oxidation of LDL from patients with familial defective apolipoprotein B-100
26. Familial defective apolipoprotein B-100: A single mutation that causes hypercholesterolemia and premature coronary artery disease
27. Hypocholesterolaemia effects of lovastatin in familial defective apolipoprotein B-100