Familial hyperchlolesterolaemia [electronic resource] : a monogenic cause of early CHD / Steve Humphries.
Material type: FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Genetics of cardiovascular disease: Publisher: London : Henry Stewart Talks, 2008Description: 1 online resource (1 streaming video file (50 min.) : color, sound)Subject(s): Cardiovascular Diseases -- genetics | Hypercholesterolemia -- geneticsOnline resources: Click here to access online | SeriesAnimated audio-visual presentation with synchronized narration.
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Contents: Clinical diagnostic criteria -- Prevalence in UK -- Effects of statins on cholesterol and CHD risk lowering -- The 3 genes where mutations cause FH (LDLR, APOB, PCSK9) -- Clinical Genetics Diagnostic service for FH and examples in families -- Cascade testing for FH patients using LDL cholesterol levels -- The Overlap problem -- The Simon Broome FH register project and the high risk of early CHD in those with an LDLR and PCSK9 mutation -- The LDLR mutation database -- Ethical issues about genetic testing for FH -- Clinical questions in the management of FH -- FH testing and insurance.
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Mode of access: World Wide Web.