Refinement of variant selection for the LDL-C genetic risk score in the diagnosis of the polygenic form of clinical Familial Hypercholesterolemia and replication in samples from six countries

BACKGROUND: Familial Hypercholesterolemia (FH) is an autosomal-dominant disorder caused by mutations in one of three genes. In the 60% of patients who are mutation-negative we have recently shown that the clinical phenotype can be associated with an accumulation of common small-effect LDL-C-raising...

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Published in:Clin Chem
Main Authors: Futema, Marta, Shah, Sonia, Cooper, Jackie A, Li, KaWah, Whittall, Ros A, Sharifi, Mahtab, Goldberg, Olivia, Drogari, Euridiki, Mollaki, Vasiliki, Wiegman, Albert, Defesche, Joep, D’Agostino, Maria N, D’Angelo, Antonietta, Rubba, Paolo, Fortunato, Giuliana, Walus-Miarka, Małgorzata, Hegele, Robert A, Bamimore, Mary Aderayo, Durst, Ronen, Leitersdorf, Eran, Mulder, Monique T, Roeters van Lennep, Janine E, Sijbrands, Eric J G, Whittaker, John C, Talmud, Philippa J, Humphries, Steve E
Format: Artigo
Language:Inglês
Published: 2014
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4892342/
https://ncbi.nlm.nih.gov/pubmed/25414277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2014.231365
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