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Research article

First published 2017-7

Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia

Paolo Rubba, Marco Gentile, Gennaro Marotta [...]

European Journal of Preventive Cardiology

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Research article

First published 2016-11

Molecular testing for familial hypercholesterolaemia-associated mutations in a UK-based cohort: development of an NGS-based method and comparison with multiplex polymerase chain reaction and oligonucleotide arrays

Anne Reiman, Sarojini Pandey, Kate L Lloyd [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Case report

First published 2002-09

Japanese familial hypercholesterolaemia with a 327insC mutation in the LDL receptor gene

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2012-8

Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland

C K M Ho, D Stirling, W Hannant [...]

Scottish Medical Journal

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Case report

First published 2011-1

Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia

A Jelassi, A Slimani, I Jguirim [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2010-1

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients

R A Whittall, M Scartezini, KaWah Li [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Case report

First published 2015-11

LDLR gene synonymous mutation c.1813C>T results in mRNA splicing variation in a kindred with familial hypercholesterolaemia

Clement KM Ho, Fathel Rahman Musa, Christine Bell [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2012-9

The first hundred families diagnosed with familial hypercholesterolaemia in two lipid clinics in lothian

Robert M Finnie, Christine Bell, Peter Bloomfield [...]

The British Journal of Diabetes & Vascular Disease

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Research article

First published 1998-3

Simplified Detection of a Mutation Causing Familial Hypercholesterolaemia Throughout Britain: Evidence for an Origin in a Common Distant Ancestor

Philip R Wenham, Lema Haddad, Maurizio Panarelli [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2021-08

The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia

Ayberk Turkyilmaz, Erdal Kurnaz, Ceren Alavanda [...]

Metabolic Syndrome and Related Disorders

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