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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4083361/
https://ncbi.nlm.nih.gov/pubmed/24956927
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-70
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