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Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk

Journal of medical genetics, 2006-12, Vol.43 (12), p.943-949

2006

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Familial hypercholesterolaemia in Portugal

Atherosclerosis, 2008-02, Vol.196 (2), p.633-642

2008

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In vitro functional characterization of missense mutations in the LDLR gene

Atherosclerosis, 2012-11, Vol.225 (1), p.128-134

2012

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Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations

Journal of medical genetics, 2009-05, Vol.46 (5), p.352-357

2009

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The effect of peroxisome-proliferator-activated receptor-alpha on the activity of the cholesterol 7 alpha-hydroxylase gene

Biochemical journal, 2000-11, Vol.351 Pt 3 (3), p.747-753

2000

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Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response

Arteriosclerosis, thrombosis, and vascular biology, 2005-12, Vol.25 (12), p.2654

2005

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Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada

Arteriosclerosis, thrombosis, and vascular biology, 1998-02, Vol.18 (2), p.309

1998

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Localization of apolipoprotein E receptor 2 to caveolae in the plasma membrane

Journal of lipid research, 2001-06, Vol.42 (6), p.998-1002

2001

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Apolipoprotein AI Mutation Arg-60 Causes Autosomal Dominant Amyloidosis

Proceedings of the National Academy of Sciences - PNAS, 1992-08, Vol.89 (16), p.7389-7393

1992

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A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing

Atherosclerosis, 2007-11, Vol.195 (1), p.e17-e20

2007

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Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia

Arteriosclerosis, thrombosis, and vascular biology, 2003-11, Vol.23 (11), p.1963

2003

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Variation in lipoprotein(a) concentration associated with different apolipoprotein(a) alleles

The Journal of clinical investigation, 1994-04, Vol.93 (4), p.1481-1492

1994

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Sorting Motifs in the Intracellular Domain of the Low Density Lipoprotein Receptor Interact with a Novel Domain of Sorting Nexin-17

The Journal of biological chemistry, 2004-04, Vol.279 (16), p.16237-16245

2004

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Metabolic basis of hyperapobetalipoproteinemia: turnover of apolipoprotein B in low density lipoprotein and its precursors and subfractions compared with normal familial hypercholesterolemia

The Journal of clinical investigation, 1986-03, Vol.77 (3), p.663-672

1986

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Genetic Variation at a Splicing Branch Point in Intron 9 of the Low Density Lipoprotein (LDL)-Receptor Gene: A Rare Mutation that Disrupts mRNA Splicing in a Patient with Familial Hypercholesterolaemia and a Common Polymorphism

Human molecular genetics, 1996-09, Vol.5 (9), p.1325-1331

1996

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Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families

Atherosclerosis, 2001-02, Vol.154 (3), p.557-565

2001

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Identification of a Point Mutation in Growth Factor Repeat C of the Low Density Lipoprotein-Receptor Gene in a Patient with Homozygous Familial Hypercholesterolemia that Affects Ligand Binding and Intracellular Movement of Receptors

Proceedings of the National Academy of Sciences - PNAS, 1989-06, Vol.86 (11), p.4166-4170

1989

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A polymorphism in exon 2 of the human LDL-receptor gene (LDLR)

Nucleic acids research, 1991-08, Vol.19 (15), p.4314-4314

SOUTAR, A. K

1991

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Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH

Arteriosclerosis, thrombosis, and vascular biology, 1995-02, Vol.15 (2), p.219

1995

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A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH)

Human molecular genetics, 1995-11, Vol.4 (11), p.2125-2129

1995

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Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664→leu mutation in the LDL receptor gene

The Journal of clinical investigation, 1991-08, Vol.88 (2), p.483-492

1991

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Intracellular transport of the low-density lipoprotein receptor

Biochemical Society transactions, 1996-05, Vol.24 (2), p.547

Soutar, A K

1996

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Effect of the StuI polymorphism in the LDL receptor gene (Ala 370 to Thr) on lipid levels in healthy individuals

Clinical genetics, 1995-02, Vol.47 (2), p.68-74

1995

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Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom

Journal of lipid research, 1996-02, Vol.37 (2), p.368-381

1996

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Human lysozyme gene mutations cause hereditary systemic amyloidosis

Nature (London), 1993-04, Vol.362 (6420), p.553-557

1993

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Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk

Familial hypercholesterolaemia in Portugal

In vitro functional characterization of missense mutations in the LDLR gene

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations

The effect of peroxisome-proliferator-activated receptor-alpha on the activity of the cholesterol 7 alpha-hydroxylase gene

Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response

Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada

Localization of apolipoprotein E receptor 2 to caveolae in the plasma membrane

Apolipoprotein AI Mutation Arg-60 Causes Autosomal Dominant Amyloidosis

A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing

Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia

Variation in lipoprotein(a) concentration associated with different apolipoprotein(a) alleles

Sorting Motifs in the Intracellular Domain of the Low Density Lipoprotein Receptor Interact with a Novel Domain of Sorting Nexin-17

Metabolic basis of hyperapobetalipoproteinemia: turnover of apolipoprotein B in low density lipoprotein and its precursors and subfractions compared with normal familial hypercholesterolemia

Genetic Variation at a Splicing Branch Point in Intron 9 of the Low Density Lipoprotein (LDL)-Receptor Gene: A Rare Mutation that Disrupts mRNA Splicing in a Patient with Familial Hypercholesterolaemia and a Common Polymorphism

Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families

Identification of a Point Mutation in Growth Factor Repeat C of the Low Density Lipoprotein-Receptor Gene in a Patient with Homozygous Familial Hypercholesterolemia that Affects Ligand Binding and Intracellular Movement of Receptors

A polymorphism in exon 2 of the human LDL-receptor gene (LDLR)

Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH

A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH)

Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664→leu mutation in the LDL receptor gene

Intracellular transport of the low-density lipoprotein receptor

Effect of the StuI polymorphism in the LDL receptor gene (Ala 370 to Thr) on lipid levels in healthy individuals

Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom

Human lysozyme gene mutations cause hereditary systemic amyloidosis

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