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

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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Detalles Bibliográficos
Main Authors: Futema, M, Plagnol, V, Li, K, Whittall, R, Neil, H, Seed, M, Bertolini, S, Calandra, S, Descamps, O, Graham, C, Hegele, R, Karpe, F, Durst, R, Leitersdorf, E, Lench, N, Nair, DR, Soran, H, Van Bockxmeer, F, Humphries, SE
Formato: Journal article
Idioma:English
Publicado: BMJ Publishing Group 2014

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