Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene-Reference-Cited by-同舟云学术

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Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene

Published:2003-02 Issue:2 Volume:166 Page:395-400
ISSN:0021-9150
Container-title:Atherosclerosis
language:en
Short-container-title:Atherosclerosis

Author:

Barbagallo C.M.,Emmanuele G.,Cefalù A.B.,Fiore B.,Noto D.,Mazzarino M.C.,Pace A.,Brogna A.,Rizzo M.,Corsini A.,Notarbartolo A.,Travali S.,Averna M.R.

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference19 articles.

1. Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia;Zuliani;Arterioscler. Thromb. Vasc. Biol.,1999

2. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein;Garcia;Science,2001

3. Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families;Eden;Am. J. Hum. Genet.,2001

4. Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis;Arca;Lancet,2002

5. Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia;Al-Kateb;Circ. Res.,2002

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Inborn Errors of Lipoprotein Metabolism Presenting in Childhood;Inborn Metabolic Diseases;2022

2. Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred;J CLIN LIPIDOL;2018

3. Ethnicity and Response to Drug Therapy;Cholesterol Lowering Therapies and Drugs;2016-10-26

4. Inborn Errors of Lipoprotein Metabolism Presenting in Childhood;Inborn Metabolic Diseases;2016

5. Prenatal Diagnosis of Disorders of Lipid Metabolism;Genetic Disorders and the Fetus;2015-11-23

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