A novel missense mutation C127R (FH Zagreb) in the LDL-receptor gene

Clinical Chemistry and Laboratory Medicine

Volumn 39, Issue 6, 2001, Pages 505-508

  Rukavina, A S ^a   Topic R Z ^a   Ferencak G ^a   Sucic M ^a  

^a KBC Zagreb   (Croatia)

Author keywords

Familial hypercholesterolemia; LDL receptor; Mutations; Single strand conformation polymorphism (SSCP)

Indexed keywords

ADENINE; ARGININE; ASPARTIC ACID; CYSTINE; CYTOSINE; GLYCINE; GUANINE; LOW DENSITY LIPOPROTEIN RECEPTOR; NUCLEIC ACID BASE; NUCLEOTIDE; RESTRICTION ENDONUCLEASE; THYMINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CONTROLLED STUDY; CROATIA; DNA SEQUENCE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; RECEPTOR GENE; SCREENING; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CROATIA; EXONS; FEMALE; GENE FREQUENCY; GENOTYPE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, LDL;

EID: 0034926260     PISSN: 14346621     EISSN: None     Source Type: Journal    
DOI: 10.1515/CCLM.2001.084     Document Type: Article

References (15)

1. Familial hypercholesterolemia
2. A world wide web site for low density lipoprotein receptor gene mutations in familial hypercholesterolemia: Sequence-based, tabular and direct submission data handling
3. Molecular genetics of the LDL-receptor gene in FH
4. Common LDL-receptor mutations in the French Canadian population
5. A common Lithuanian mutation causing FH in Ashkenazi Jews
6. The molecular basis and diagnosis of familial hypercholesterolemia in South African Afrikaners
7. Rapid diagnosis of familial defective apolipoprotin B-100
8. Construction of human gene libraries from small amounts of peripheral blood: Analysis of β-like globin genes
9. 5-methyl-cytosine as an endogenous mutagen in the LDL receptor and p53 genes
10. 200--Gly
11. Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in
12. Mutations of LDL receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia
13. Effect on plasma lipid levels of different classes of mutations in the LDL-receptor gene in patients with familial hypercholesterolemia
14. Phenotypic variation in heterozygous familial hypercholesterolemia
15. Mutational analysis of the ligand binding domain of the LDL-receptor