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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 2014
Gaiak:
Complex Traits
Sarrera elektronikoa: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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