Medical genetics: advances in brief: Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia

W Reardon

doi:10.1136/jmg.30.9.796-b

Medical genetics: advances in brief: Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia

Journal of Medical Genetics ◽

10.1136/jmg.30.9.796-b ◽

1993 ◽

Vol 30 (9) ◽

pp. 796-796

Author(s):

W Reardon

Keyword(s):

Familial Hypercholesterolaemia ◽

Plasma Cholesterol ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Gene Variation ◽

Density Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolaemia

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Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia

The Lancet ◽

10.1016/0140-6736(93)90815-x ◽

1993 ◽

Vol 341 (8856) ◽

pp. 1303-1306 ◽

Cited By ~ 118

Author(s):

S MOORJANI

Keyword(s):

Familial Hypercholesterolaemia ◽

Plasma Cholesterol ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Gene Variation ◽

Density Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolaemia

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Differential response to PCSK-9 inhibitor therapy is related to the type of low density lipoprotein receptor gene mutation in patients with homozygous familial hypercholesterolaemia

Atherosclerosis ◽

10.1016/j.atherosclerosis.2020.10.135 ◽

2020 ◽

Vol 315 ◽

pp. e42

Author(s):

N.A. Mohd Kasim ◽

S.A. Nazli ◽

M.H. Muhmad Hamidi ◽

Y.A. Chua ◽

H. Sani ◽

...

Keyword(s):

Gene Mutation ◽

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Differential Response ◽

Low Density ◽

Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolaemia

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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 ◽

Cited By ~ 12

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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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 ◽

Cited By ~ 13

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 ◽

Cited By ~ 6

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

Download Full-text

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 ◽

Cited By ~ 43

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 ◽

Cited By ~ 22

Author(s):

M J Kotze ◽

E Langenhoven ◽

A E Retief ◽

K Steyn ◽

M P Marais ◽

...

Keyword(s):

Gene Locus ◽

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 ◽

Cited By ~ 19

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

The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels

Journal of Medical Genetics ◽

10.1136/jmg.39.9.e57 ◽

2002 ◽

Vol 39 (9) ◽

pp. 57e-57 ◽

Cited By ~ 10

Author(s):

R A Whittall

Keyword(s):

Plasma Cholesterol ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Cholesterol Levels ◽

Density Lipoprotein Receptor

Download Full-text