Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia-Reference-Cited by-同舟云学术

Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia

Published:2014-09-24 Issue:6 Volume:23 Page:790-795
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Khamis Amna,Palmen Jutta,Lench Nick,Taylor Alison,Badmus Ebele,Leigh Sarah,Humphries Steve E

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014199.pdf

Reference35 articles.

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2. Nordestgaard BG, Chapman MJ, Humphries SE et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013; 34: 3478–90a.

3. Soutar AK, Naoumova RP : Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nature clinical practice. Cardiovasc Med 2007; 4: 214–225.

4. Varret M, Abifadel M, Rabes JP, Boileau C : Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet 2008; 73: 1–13.

5. Leigh SE, Foster AH, Whittall RA, Hubbart CS, Humphries SE : Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet 2008; 72 (Pt 4): 485–498.

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