Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy-Reference-Cited by-同舟云学术

Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy

Published:2010-06 Issue:2 Volume:210 Page:493-496
ISSN:0021-9150
Container-title:Atherosclerosis
language:en
Short-container-title:Atherosclerosis

Author:

Romano Maria,Di Taranto Maria Donata,D’Agostino Maria Nicoletta,Marotta Gennaro,Gentile Marco,Abate Giovanna,Mirabelli Peppino,Di Noto Rosa,Del Vecchio Luigi,Rubba Paolo,Fortunato Giuliana

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference15 articles.

1. Genetic heterogeneity of autosomal dominant hypercholesterolemia;Varret;Clin Genet,2008

2. Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database;Leigh;Ann Hum Genet,2008

3. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia;Hobbs;Hum Mutat,1992

4. Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia;Bertolini;Arterioscler Thromb Vasc Biol,1999

5. Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol;Chaves;J Clin Endocrinol Metab,2001

Cited by 31 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. Unveiling Familial Hypercholesterolemia—Review, Cardiovascular Complications, Lipid-Lowering Treatment and Its Efficacy;International Journal of Molecular Sciences;2024-01-29

2. Genetic backgrounds and diagnosis of familial hypercholesterolemia;Clinical Genetics;2023-10-17

3. LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients;Gene;2023-02

4. Genetic and molecular architecture of familial hypercholesterolemia;Journal of Internal Medicine;2022-10-17

5. Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel;Genes;2022-06-01