Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
Atherosclerosis
Futema, Marta M; Whittall, Ros A RA; Kiley, Amy A; Steel, Louisa K LK; Cooper, Jackie A JA; Badmus, Ebele E; Leigh, Sarah E SE; Karpe, Fredrik F; Neil, H Andrew W HA; , ; Humphries, Steve E SE
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Human Mutation
Marduel, Marie M; Carrié, Alain A; Sassolas, Agnes A; Devillers, Martine M; Carreau, Valérie V; Di Filippo, Mathilde M; Erlich, Danièle D; Abifadel, Marianne M; Marques-Pinheiro, Alice A; Munnich, Arnold A; Junien, Claudine C; , ; Boileau, Catherine C; Varret, Mathilde M; Rabès, Jean-Pierre JP