Article
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.
Annals of clinical biochemistry - 1 Nov 2016
Reiman Anne, Pandey Sarojini, Lloyd Kate L, Dyer Nigel, Khan Mike, Crockard Martin, Latten Mark J, Watson Tracey L, Cree Ian A, Grammatopoulos Dimitris K
Abstract excerpt
Background Detection of disease-associated mutations in patients with familial hypercholesterolaemia is crucial for early interventions to reduce risk of cardiovascular disease. Screening for these mutations represents a methodological challenge since more than 1200 different causal mutations in...
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