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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Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: BMJ Publishing Group 2014
Ämnen:
Complex Traits
Länkar: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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