Geographic distribution of French‐Canadian low‐density lipoprotein receptor gene mutations in the Province of Quebec
MC Vohl, S Moorjan, M Roy, D Gaudet… - Clinical …, 1997 - Wiley Online Library
A total of 35 homozygous and 1320 heterozygous patients with familial
hypercholesterolemia (FH) was screened for the presence of six low‐density lipoprotein …
hypercholesterolemia (FH) was screened for the presence of six low‐density lipoprotein …
Fine mapping of low-density lipoprotein receptor gene by genetic linkage on chromosome 19p13. 1-p13. 3 and study of the founder effect of four French Canadian low …
P Couture, J Morissette, D Gaudet, MC Vohl, C Gagné… - Atherosclerosis, 1999 - Elsevier
Familial hypercholesterolemia (FH) is one of the most common autosomal codominant
diseases. FH is caused by mutations in the low-density lipoprotein receptor (LDLR) gene …
diseases. FH is caused by mutations in the low-density lipoprotein receptor (LDLR) gene …
Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene
S Lind, E Rystedt, M Eriksson, O Wiklund, B Angelin… - Atherosclerosis, 2002 - Elsevier
Familial hypercholesterolemia (FH) is an autosomal codominant disease, caused by
mutations in the LDL receptor gene. To characterize the distribution of genetic aberrations in …
mutations in the LDL receptor gene. To characterize the distribution of genetic aberrations in …
Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of …
O Loubser, AD Marais, MJ Kotze2, N Godenir… - Clinical …, 1999 - Wiley Online Library
The South African population harbors genes that are derived from varying degrees of
admixture between indigenous groups and immigrants from Europe and the East. This study …
admixture between indigenous groups and immigrants from Europe and the East. This study …
Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics
MJ Kotze, AV Peeters, E Langenhoven, JG Wauters… - Atherosclerosis, 1994 - Elsevier
DNA screening for apolipoprotein (apo) B mutations causing familial defective
apolipoprotein B-100 (FDB) was performed in 87 hyperlipidemic Belgian individuals using …
apolipoprotein B-100 (FDB) was performed in 87 hyperlipidemic Belgian individuals using …
Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations.
MJ Kotze, L Theart, M Callis, AV Peeters… - Genome …, 1995 - genome.cshlp.org
We have developed a rapid, nonradioactive screening test enabling the simultaneous
analysis of three low-density lipoprotein receptor (LDLR) gene mutations (D154N, D206E …
analysis of three low-density lipoprotein receptor (LDLR) gene mutations (D154N, D206E …
CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolemia among South African Indians
MJ Kotze, O Loubser, R Thiart, JNP de Villiers… - Clinical …, 1997 - Wiley Online Library
Mutation analysis of genomic DNA samples obtained from seven unrelated South African
Indians with familial hypercholesterolaemia (FH) revealed two novel and two recurrent …
Indians with familial hypercholesterolaemia (FH) revealed two novel and two recurrent …
Auto-antibodies against oxidized LDL as a marker of coronary artery disease in patients with familial hypercholesterolaemia
JE Paiker, FJ Raal, M Von Arb - Annals of clinical …, 2000 - journals.sagepub.com
Auto-antibodies to oxidized low-density lipoprotein (ox-LDL) are thought to play a pivotal
role in the pathogenesis of atherosclerosis. This study investigates the value of auto …
role in the pathogenesis of atherosclerosis. This study investigates the value of auto …
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia
R Thiart, CL Scholtz, J Vergotine… - Journal of medical …, 2000 - jmg.bmj.com
In South Africa, the high prevalence of familial hypercholesterolaemia (FH) among
Afrikaners, Jews, and Indians as a result of founder genes is in striking contrast to its …
Afrikaners, Jews, and Indians as a result of founder genes is in striking contrast to its …
Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling
MJ Kotze, HJ Davis, S Bissbort… - Clinical …, 1993 - Wiley Online Library
Kotze MJ, Davis HJ, Bissbort S, Langenhoven E, Brusnicky J, Oosthuizen CJJ. Intrafamilial
variability in the clinical expression of familial hypercholesterolemia: importance of risk factor …
variability in the clinical expression of familial hypercholesterolemia: importance of risk factor …