LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance-Reference-Cited by-同舟云学术

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LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance

Published:2008-07-23 Issue:1 Volume:17 Page:85-90
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Snozek Christine LH,Lagerstedt Susan A,Khoo Teck K,Rubenfire Melvyn,Isley William L,Train Laura J,Baudhuin Linnea M

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2008138.pdf

Reference29 articles.

1. Garg A, Simha V : Update on dyslipidemia. J Clin Endocrinol Metab 2007; 92: 1581–1589.

2. Sibley C, Stone NJ : Familial hypercholesterolemia: a challenge of diagnosis and therapy. Cleve Clin J Med 2006; 73: 57–64.

3. Soutar AK, Naoumova RP : Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007; 4: 214–225.

4. Austin MA, Hutter CM, Zimmern RL, Humphries SE : Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004; 160: 407–420.

5. Alkofer BJ, Chiche L, Khayat A et al: Liver transplant combined with heart transplant in severe heterozygous hypercholesterolemia: report of the first case and review of the literature. Transplant Proc 2005; 37: 2250–2252.

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1. Prevalence of genetically defined familial hypercholesterolemia and the impact on acute myocardial infarction in Taiwanese population: A hospital-based study;Frontiers in Cardiovascular Medicine;2022-09-12

2. Homozygous familial hypercholesterolemia with cutaneous xanthomas in a child;International Journal of Dermatology;2022-01-04

3. Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk;Nature Genetics;2018-08-20

4. OBSOLETE: Familial Hypercholesterolemia;Reference Module in Biomedical Sciences;2018

5. Familial Hypercholesterolemia;Encyclopedia of Cardiovascular Research and Medicine;2018

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