Familial hypercholesterolaemia in Portugal

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Marianne Abifadel, Mathilde Varret, Jean‐Pierre Rabès et al. · Nature Genetics · 2003 · 3K citations

Life Sciences, Genetics, Molecular Genetics +10

Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group.

Margaret Thorogood · BMJ · 1991 · 817 citations · Full text

Medicine, Cardiology, Health Sciences +17

Mutations in the <i>PCSK9</i> gene in Norwegian subjects with autosomal dominant hypercholesterolemia

TP Leren · Clinical Genetics · 2004 · 249 citations

Medicine, Genetics, Molecular Genetics +15

Proof of “disease causing” mutation

RGH Cotton, C. R. Scriver · Human Mutation · 1998 · 204 citations

Life Sciences, Genetics, Molecular Genetics +9

Severe Hypercholesterolemia in Four British Families With the D374Y Mutation in the PCSK9 Gene

R.P. Naoumova, Isabella Tosi, Dilip Patel et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2005 · 180 citations

Life Sciences, Genetics, Molecular Genetics +17