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...

Descripción completa

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

Internet

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

Ejemplares similares