Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project (Q57316565)

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20 January 2020

title

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project (English)

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A Taylor

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D Wang

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K Patel

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R Whittall

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G Wood

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S Fairgrieve

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D Nair

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M Barbir

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S Egan

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R Everdale

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Y Lolin

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E Hughes

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G Norbury

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R D G Neely

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J L Jones

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J A Cooper

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S G Hadfield

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publication date

13 March 2010

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volume

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issue

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page(s)

572-580

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A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia

20 January 2020

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Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study

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Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes

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Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing

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Genetic heterogeneity of autosomal dominant hypercholesterolemia.

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Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.

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Common variants at 30 loci contribute to polygenic dyslipidemia

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Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

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Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of theLDLRgene in patients with familial hypercholesterolaemia

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

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The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia

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Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

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Recurrent mutation at aa 792 in the LDL receptor gene in a French patient

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Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia

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Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing

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Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations

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21 January 2018

Identifiers

DOI

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20 January 2020

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