Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

BACKGROUND: Familial hypercholesterolaemia (FH) is an autosomal dominant disease of lipid metabolism, which leads to early coronary heart disease. Mutations in LDLR, APOB and PCSK9 can be detected in 80% of definite FH (DFH) patients. This study aimed to identify novel FH-causing genetic variants in...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Futema, Marta, Plagnol, Vincent, Li, KaWah, Whittall, Ros A, Neil, H Andrew W, Seed, Mary, Bertolini, Stefano, Calandra, Sebastiano, Descamps, Olivier S, Graham, Colin A, Hegele, Robert A, Karpe, Fredrik, Durst, Ronen, Leitersdorf, Eran, Lench, Nicholas, Nair, Devaki R, Soran, Handrean, Van Bockxmeer, Frank M, Humphries, Steve E
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2014
Pynciau:
Complex Traits
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4112429/
https://ncbi.nlm.nih.gov/pubmed/24987033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2014-102405
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