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Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study

BACKGROUND: Familial hypercholesterolaemia (FH) is a common Mendelian condition which, untreated, results in premature coronary heart disease. An estimated 88% of FH cases are undiagnosed in the UK. We previously validated a method for FH mutation detection in a lipid clinic population using next ge...

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Detalles Bibliográficos
Autores principales:	Norsworthy, Penny J, Vandrovcova, Jana, Thomas, Ellen RA, Campbell, Archie, Kerr, Shona M, Biggs, Jennifer, Game, Laurence, Soutar, Anne K, Smith, Blair H, Dominiczak, Anna F, Porteous, David J, Morris, Andrew D, Scotland, Generation, Aitman, Timothy J
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4083361/ https://www.ncbi.nlm.nih.gov/pubmed/24956927 http://dx.doi.org/10.1186/1471-2350-15-70

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