Two novel mutations in the LDL receptor gene: Common causes of familial hypercholesterolemia in a Spanish population
A Cenarro, HK Jensen, F Civeira, E Casao… - Clinical …, 1996 - Wiley Online Library
In our investigation of the LDL receptor gene in 30 Spanish patients, who were clinically
diagnosed as heterozygous FH and were unrelated, we have applied single strand …
diagnosed as heterozygous FH and were unrelated, we have applied single strand …
Microalbuminuria is not associated with cardiovascular disease in patients with homozygous familial hypercholesterolaemia
M Zouvanis, FJ Raal, BI Joffe, HC Seftel - Atherosclerosis, 1995 - Elsevier
Microalbuminuria is thought to be a predictor of cardiovascular disease (CVD). A high
prevalence of microalbuminuria might therefore be expected in patients with homozygous …
prevalence of microalbuminuria might therefore be expected in patients with homozygous …
Lack of effect of high dose vitamin E on xanthoma regression in homozygous familial hypercholesterolaemia
FJ Raal, AJ Areias, GJ Pilcher, BI Joffe, HC Seftel - Atherosclerosis, 1994 - Elsevier
There is increasing evidence that oxidative modification of low-density lipoprotein (LDL)
plays an important role in the pathogenesis of atherosclerosis. Homozygous familial …
plays an important role in the pathogenesis of atherosclerosis. Homozygous familial …
[PDF][PDF] Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in South African coloureds and Afrikaners
MJ Kotze, E Langenhoven, L Theart, O Loubser… - South African Medical …, 1995 - ajol.info
DNA samples of individuals, previously typed by hybridisation with allele-specific
oligonucleotides for the absence or presence of the FH2 mutation (Val< aa to Met, G to A …
oligonucleotides for the absence or presence of the FH2 mutation (Val< aa to Met, G to A …
[PDF][PDF] Familial defective apolipoprotein-B is rare in hypercholesterolaemic South African Afrikaners, coloureds and Indians
DC Rubinsztein, GA Coetzee… - South African Medical …, 1995 - ajol.info
The frequency of familial defective apolipoprotein B-100 (FOB) was assessed among
hypercholesterolaemic Afrikaners, coloureds and Indians. Patients selected for screening …
hypercholesterolaemic Afrikaners, coloureds and Indians. Patients selected for screening …
Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene
MJ Kotze, R Thiart, O Loubser, JNP de Villiers… - Human genetics, 1996 - Springer
Mutation analysis of the low density lipoprotein receptor (LDLR) gene revealed a novel 8-bp
duplication after nucleotide 681 in a Costa Rican patient with familial hypercholesterolaemia …
duplication after nucleotide 681 in a Costa Rican patient with familial hypercholesterolaemia …
Development of a universal chemiluminometric genotyping method for high-throughput detection of 7 LDLR gene mutations in Greek population
K Glynou, E Laios, E Drogari, V Tsaoussis - Clinical biochemistry, 2008 - Elsevier
OBJECTIVES: Familial hypercholesterolemia (FH) is caused by mutations in the LDL
receptor (LDLR) gene. We report the application of a universal method with high allele …
receptor (LDLR) gene. We report the application of a universal method with high allele …
Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis
JNP de Villiers, MJ Kotze - Blood Cells, Molecules, and Diseases, 1999 - Elsevier
An increasing number of studies demonstrate a lack of phenotypic expression in subjects
found to be homozygous for the common hereditary hemochromatosis (HH) mutation …
found to be homozygous for the common hereditary hemochromatosis (HH) mutation …
Effect of simvastatin, a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor, on the haemostatic balance of familial hypercholesterolaemic subjects
JC Jerling, HH Vorster, W Oosthuizen… - Fibrinolysis and …, 1997 - Elsevier
Background: Previous studies have shown that the use of 3-hydroxy-3-methylglutaryl
coenzyme A (HMG-CoA) reductase inhibitors reduce cardiovascular mortality and all-cause …
coenzyme A (HMG-CoA) reductase inhibitors reduce cardiovascular mortality and all-cause …
Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element
CF Hoogendijk, CL Scholtz, SM Pimstone… - Molecular and cellular …, 2003 - Elsevier
DNA samples of 2303 individuals from nine different population groups were screened for
variant− 175g→ t in the promoter region of the low-density lipoprotein receptor (LDLR) gene …
variant− 175g→ t in the promoter region of the low-density lipoprotein receptor (LDLR) gene …