Severe Hypercholesterolemia in Four British Families With the D374Y Mutation in the PCSK9 Gene-Reference-Cited by-同舟云学术

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

Published:2005-12 Issue:12 Volume:25 Page:2654-2660
ISSN:1079-5642
Container-title:Arteriosclerosis, Thrombosis, and Vascular Biology
language:en
Short-container-title:ATVB

Author:

Naoumova Rossi P.¹,Tosi Isabella¹,Patel Dilip¹,Neuwirth Clare¹,Horswell Stuart D.¹,Marais A. David¹,van Heyningen Charles¹,Soutar Anne K.¹

Affiliation:

1. From the MRC Clinical Sciences Centre (R.P.N., I.T., D.P., C.N., S.D.H., A.K.S.), Hammersmith Hospital, London, UK; University of Cape Town (A.D.M.), Republic of South Africa; and University Hospital (C.v.H.), Aintree, Liverpool, UK.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Cardiology and Cardiovascular Medicine

Reference22 articles.

1. Goldstein J Hobbs H Brown M. Familial hypercholesterolemia. In: Valle D Scriver CR Beaudet A Sly WS Childs B Kinzler KW Volgestein B eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York NY: McGraw Hill; 2001: 2863–2913.

2. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.

3. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

4. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

5. Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia

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