Comparison of the effect of two low‐density lipoprotein receptor class mutations on coronary heart disease among French‐Canadian patients heterozygous for familial hypercholesterolaemia

European Journal of Clinical Investigation ◽

10.1046/j.1365-2362.1997.1250669.x ◽

1997 ◽

Vol 27 (5) ◽

pp. 366-373 ◽

Author(s):

M.‐C. VOHL ◽

D. GAUDET ◽

S. MOORJANI ◽

G. TREMBLAY ◽

P. PERRON ◽

...

Keyword(s):

Coronary Heart Disease ◽

Heart Disease ◽

Familial Hypercholesterolaemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

French Canadian ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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Low density lipoprotein receptor polymorphisms and the risk of coronary heart disease: the Atherosclerosis Risk in Communities Study

Journal of Thrombosis and Haemostasis ◽

10.1111/j.1538-7836.2008.03262.x ◽

2009 ◽

Vol 7 (3) ◽

pp. 496-498 ◽

Author(s):

N. FRANCESCHINI ◽

H. MUALLEM ◽

K. M. ROSE ◽

E. BOERWINKLE ◽

N. MAEDA

Keyword(s):

Coronary Heart Disease ◽

Heart Disease ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Atherosclerosis Risk In Communities ◽

Atherosclerosis Risk ◽

Density Lipoprotein Receptor

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Homozygous mutations of low-density lipoprotein receptor gene in a family with familial hypercholesterolaemia

Atherosclerosis ◽

10.1016/j.atherosclerosis.2018.06.549 ◽

2018 ◽

Vol 275 ◽

pp. e180

Author(s):

A. AL-Khateeb ◽

N.A. Mohd Kasim ◽

Y.A. Chua ◽

S.N.F. Ismail ◽

L.K. The ◽

...

Keyword(s):

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Homozygous Mutations

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New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: Molecular and functional analysis

Journal of Inherited Metabolic Disease ◽

10.1023/b:boli.0000037337.93335.c4 ◽

2004 ◽

Vol 27 (4) ◽

pp. 523-528 ◽

Author(s):

H. Francová ◽

M. Trbušek ◽

P. Zapletalová ◽

V. Kuhrová

Keyword(s):

Functional Analysis ◽

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Promoter Mutations

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New type of the internalization-defective low-density lipoprotein receptor owing to two-nucleotide deletion (2199delCA or 2201delCA) in Japanese patients with familial hypercholesterolaemia

European Journal of Clinical Investigation ◽

10.1046/j.1365-2362.1998.00332.x ◽

1998 ◽

Vol 28 (9) ◽

pp. 712-719 ◽

Author(s):

Tashiro ◽

Endo ◽

Bujo ◽

Shinomiya ◽

Morisaki ◽

...

Keyword(s):

Familial Hypercholesterolaemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Japanese Patients ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Nucleotide Deletion ◽

Density Lipoprotein Receptor ◽

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Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response

European Journal of Clinical Investigation ◽

10.1046/j.1365-2362.1998.00355.x ◽

1998 ◽

Vol 28 (9) ◽

pp. 740-747 ◽

Author(s):

Ekström ◽

Abrahamson ◽

Wallmark ◽

Florén ◽

Nilsson-Ehle

Keyword(s):

Treatment Response ◽

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Clinical Expression ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia

Journal of Inherited Metabolic Disease ◽

10.1023/a:1026704517598 ◽

2000 ◽

Vol 23 (8) ◽

pp. 778-790 ◽

Author(s):

N. Weiss ◽

G. Binder ◽

C. Keller

Keyword(s):

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations

Human Genetics ◽

10.1007/s004390050243 ◽

1996 ◽

Vol 98 (4) ◽

pp. 479-484 ◽

Author(s):

K. Steyn ◽

Y. P. Goldberg ◽

M. J. Kotze ◽

M. Steyn ◽

A. S. P. Swanepoel ◽

...

Keyword(s):

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia.

Journal of Medical Genetics ◽

10.1136/jmg.24.12.750 ◽

1987 ◽

Vol 24 (12) ◽

pp. 750-755 ◽

Author(s):

M J Kotze ◽

E Langenhoven ◽

A E Retief ◽

K Steyn ◽

M P Marais ◽

...

Keyword(s):

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Dna Polymorphisms ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia.

Journal of Medical Genetics ◽

10.1136/jmg.30.4.273 ◽

1993 ◽

Vol 30 (4) ◽

pp. 273-279 ◽

Author(s):

S Humphries ◽

L King-Underwood ◽

V Gudnason ◽

M Seed ◽

S Delattre ◽

...

Keyword(s):

Genetic Relationship ◽

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Dna Polymorphisms ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text

A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient

Cureus ◽

10.7759/cureus.12184 ◽

2020 ◽

Author(s):

Lilla Juhász ◽

István Balogh ◽

László Madar ◽

Beáta Kovács ◽

Mariann Harangi

Keyword(s):

Apolipoprotein B ◽

Familial Hypercholesterolaemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Heterozygous Mutation ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text