Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations-Reference-Cited by-同舟云学术

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Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations

Published:2016-07 Issue:4 Volume:10 Page:944-952.e1
ISSN:1933-2874
Container-title:Journal of Clinical Lipidology
language:en
Short-container-title:Journal of Clinical Lipidology

Author:

Rabacchi Claudio,Bigazzi Federico,Puntoni Mariarita,Sbrana Francesco,Sampietro Tiziana,Tarugi Patrizia,Bertolini Stefano,Calandra Sebastiano

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference35 articles.

1. Familial hypercholesterolemia;Goldstein,2001

2. Mechanisms of disease: genetic causes of familial hypercholesterolemia;Soutar;Nat Clin Pract Cardiovasc Med,2007

3. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment;Raal;Atherosclerosis,2012

4. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy;Bertolini;Atherosclerosis,2013

5. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome;Sjouke;Eur Heart J,2015

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