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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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 2014
主題:
Complex Traits
オンライン･アクセス: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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