Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population-Reference-Cited by-同舟云学术

Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population

Published:2003-09-24 Issue:12 Volume:11 Page:959-965
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Real José T,Chaves Felipe J,Ejarque Ismael,García-García Ana B,Valldecabres Carmen,Ascaso Juan F,Armengod María E,Carmena Rafael

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201079.pdf

Reference50 articles.

1. Brown MS, Goldstein JL : A receptor-mediated pathway for cholesterol homeostasis. Science 1986; 232: 34–47.

2. Hobbs H, Brown MS, Goldstein JL : Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992; 1: 445–466.

3. Varret M, Rabes JP, Thiart R et al: LDLR database (second edition): new additions to the database and the software, and results of the first molecular analysis. Nucl Acid Res 1998; 26: 248–252.

4. Wilson DJ, Gahan M, Haddad L et al: A world wide website for LDLR gene mutations in FH: sequence-based, tabular, and direct submission data handling. Am J Cardiol 1998; 81: 1509–1511.

5. Volh MC, Gaudet D, Moorjani S et al: Comparison of the effect of two low-density lipoprotein receptor class mutations on coronary heart disease among French–Canadian patients heterozygous for familial hypercholesterolemia. Eur J Clin Invest 1997; 27: 366–373.

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