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

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Genetic Study of Low-Density Lipoprotein Receptor Gene and Apolipoprotein B-100 Gene among Malaysian Patients with Familial Hypercholesterolaemia

International Archives of Medicine ◽

10.3823/2053 ◽

2016 ◽

Author(s):

Alyaa Al-Khateeb ◽

Nur Suhana Hamzan ◽

Rafezah Razali ◽

Gabriele Anisah Froemming ◽

Thuhairah Rahman ◽

...

Keyword(s):

Genetic Study ◽

Apolipoprotein B ◽

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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Erratum to “the affinity of low-density lipoproteins and of very-low-density lipoprotein remnants for the low-density lipoprotein receptor in homozygous familial defective apolipoprotein B-100”

Atherosclerosis ◽

10.1016/0021-9150(95)05677-o ◽

1995 ◽

Vol 117 (2) ◽

pp. 309

Author(s):

J.J. Gallagher ◽

N.B. Myant

Keyword(s):

Apolipoprotein B ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density Lipoproteins ◽

Very Low Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

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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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 ◽

Cited By ~ 46

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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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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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 ◽

Cited By ~ 1

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 ◽

New Type

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Does the EcoRI polymorphism in the human apolipoprotein B gene affect the binding of low density lipoprotein to the low density lipoprotein receptor?

Arteriosclerosis and Thrombosis A Journal of Vascular Biology ◽

10.1161/01.atv.12.2.256 ◽

1992 ◽

Vol 12 (2) ◽

pp. 256-260 ◽

Cited By ~ 10

Author(s):

J J Gallagher ◽

N B Myant

Keyword(s):

Apolipoprotein B ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Human Apolipoprotein ◽

Density Lipoprotein Receptor ◽

Apolipoprotein B Gene

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Presence of an Extended Duplication in the Putative Low-Density-Lipoprotein Receptor-Binding Domain of Apolipoprotein B. Cloning and Characterization of the Domain in Salmon

European Journal of Biochemistry ◽

10.1111/j.1432-1033.1995.tb20532.x ◽

1995 ◽

Vol 230 (1) ◽

pp. 45-51 ◽

Cited By ~ 6

Author(s):

Patrick J. Babin ◽

Francois Deryckere ◽

Frank Gannon

Keyword(s):

Receptor Binding ◽

Apolipoprotein B ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Receptor Binding Domain ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

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The Relationship between Lectin-Like Oxidized Low-Density Lipoprotein Receptor-1 Ligands Containing Apolipoprotein B and the Cardio-Ankle Vascular Index in Healthy Community Inhabitants: The KOBE Study

Journal of Atherosclerosis and Thrombosis ◽

10.5551/jat.26450 ◽

2015 ◽

Vol 22 (5) ◽

pp. 499-508 ◽

Cited By ~ 11

Author(s):

Daisuke Sugiyama ◽

Aya Higashiyama ◽

Ichiro Wakabayashi ◽

Yoshimi Kubota ◽

Yoshiko Adachi ◽

...

Keyword(s):

Apolipoprotein B ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Oxidized Low Density Lipoprotein ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Healthy Community ◽

The Relationship

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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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