Associated Papers
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.
Martin R et al.
Atherosclerosis, 2016
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.
Snozek CL et al.
European Journal of Human Genetics : Ejhg, 2009
The UMD-LDLR database: additions to the software and 490 new entries to the database.
Villéger L et al.
Human Mutation, 2002
A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.
Heath KE et al.
European Journal of Human Genetics : Ejhg, 2001
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