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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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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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

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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

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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

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Is responsiveness to lovastatin in familial hypercholesterolaemia heterozygotes influenced by the specific mutation in the low-density lipoprotein receptor gene?

European Journal of Clinical Investigation ◽

10.1111/j.1365-2362.1995.tb01975.x ◽

1995 ◽

Vol 25 (12) ◽

pp. 967-973 ◽

Author(s):

T. P. LEREN ◽

I. HJERMANN

Keyword(s):

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Specific Mutation ◽

Density Lipoprotein Receptor

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Molecular Genetics of Familial Hypercholesterolaemia: Common and Rare Mutations of the Low Density Lipoprotein Receptor Gene

Annals of Medicine ◽

10.3109/07853899209147838 ◽

1992 ◽

Vol 24 (5) ◽

pp. 363-367 ◽

Author(s):

Kimmo Kontula ◽

Ulla-Maija Koivisto ◽

Pekka Koivisto ◽

Hannu Turtola

Keyword(s):

Molecular Genetics ◽

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Rare Mutations ◽

Density Lipoprotein Receptor

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Characterisation of the low density lipoprotein receptor gene mutations causing familial hypercholesterolaemia in Northwestern Greece

Atherosclerosis Supplements ◽

10.1016/s1567-5688(01)80133-1 ◽

2001 ◽

Vol 2 (2) ◽

pp. 67

Author(s):

G. Miltiadous ◽

S. Xenophontos ◽

E. Bairaktari ◽

V. Tsimihodimos ◽

A. Tselepis ◽

...

Keyword(s):

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Gene Mutations ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor ◽

Northwestern Greece

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Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C→T mutation of low-density lipoprotein receptor gene

Chinese Medical Journal ◽

10.1097/00029330-200805010-00002 ◽

2008 ◽

Vol 121 (9) ◽

pp. 776-781 ◽

Author(s):

Jie LIN ◽

Lu-ya WANG ◽

Shu LIU ◽

Jun-hui XIA ◽

Qiang YONG ◽

...

Keyword(s):

Functional Analysis ◽

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

Homozygous Familial Hypercholesterolemia ◽

Low Density Lipoprotein Receptor ◽

Density Lipoprotein Receptor

Download Full-text