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Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic()

AIM: To determine the frequency and spectrum of mutations causing Familial Hypercholesterolaemia (FH) in patients attending a single UK specialist hospital lipid clinic in Oxford and to identify characteristics contributing to a high mutation detection rate. METHODS: 289 patients (272 probands) were...

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Detalles Bibliográficos
Autores principales:	Futema, Marta, Whittall, Ros A., Kiley, Amy, Steel, Louisa K., Cooper, Jackie A., Badmus, Ebele, Leigh, Sarah E., Karpe, Fredrik, Neil, H. Andrew W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2013
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701838/ https://www.ncbi.nlm.nih.gov/pubmed/23669246 http://dx.doi.org/10.1016/j.atherosclerosis.2013.04.011

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