Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492lle in the apolipoprotein B gene

European Journal of Human Genetics

Volumn 9, Issue 11, 2001, Pages 836-842

  Bednarska Makaruk, Małgorzata ^a   Bisko, Mariola ^a   Puławska, Maria F ^b   Hoffman Zacharska, Dorota ^a   Rodo, Maria ^a   Roszczynko, Marta ^b   Solik Tomassi, Alicja ^b   Broda, Grażyna ^b   Polakowska, Maria ^b   Pytlak, Aleksandra ^b   Wehr, Hann ^a  

^a INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^b INSTITUTE OF CARDIOLOGY   (Poland)

Author keywords

Familial defective apolipoprotein B 100 (FDB); New mutation; Prevalence in Poland

Indexed keywords

APOLIPOPROTEIN B; APOLIPOPROTEIN B100; ARGININE; DNA; GLUTAMINE; ISOLEUCINE; LIPID; THREONINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; ATHEROSCLEROSIS; BASE MISPAIRING; CAUCASIAN; CLINICAL FEATURE; CODON; CONTROLLED STUDY; DNA SCREENING; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE LOCUS; GENE MUTATION; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; LIPID BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; POLAND; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SITE DIRECTED MUTAGENESIS; WESTERN EUROPE;

ADULT; AGED; AGED, 80 AND OVER; APOLIPOPROTEIN B-100; APOLIPOPROTEINS B; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HUMANS; HYPERCHOLESTEROLEMIA; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; POLAND; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREVALENCE;

EID: 18244365633     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200720     Document Type: Article

References (28)

1. Familial defective apolipoprotein B-100: Low density lipoproteins with abnormal receptor binding
2. Familial defective apolipoprotein B-100: Detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases
3. Familial defective apolipoprotein B-100 is clinically undistinguishable from familial hypercholesterolemia
4. Variable expression of the mutation in familial defective apolipoprotein B-100
5. Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia
6. Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia
7. Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease
8. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100
9. Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia
10. Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding activity
11. Familial defective apolipoprotein B-100: A common cause of primary hypercholesterolemia
12. 3500→glutamine mutation in human ApoB-100
13. Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries
14. Familial defective apolipoprotein B-100
15. Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B-100
16. LDL-R and apo-B-100 gene mutations in Polish familial hypercholesterolemias
17. European Atherosclerosis Society: The recognition and management of hyperlipidemia in adults: A policy statement of the European Atherosclerosis Society
18. 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
19. Seven DNA polymorphism in the LDL receptor gene: Application to the study of familial hypercholesterolemia in Spain
20. Using mutagenic polymerase chain reaction primers to detect carriers of Familial Defective Apolipoprotein B-100
21. Frequencies of five genetic polymorphisms in coronarographed patients and effects on lipid levels in a supposedly healthy population
22. Restriction isotyping of human apolipoproteinE by gene amplification and cleavage with HhaI
23. Familial defective apolipoprotein B-100: A single mutation that causes hypercholesterolemia and premature coronary artery disease
24. Familial hypercholesterolemia
25. Characteristics of 46 heterozygous carriers and 57 unaffected relatives in five Danish families with familial defective apolipoprotein B100
26. 3531→Cys mutations in a French population