Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series-Reference-Cited by-同舟云学术

Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series

Published:2020-09-11 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Marusic Tatiana,Sustar Ursa,Sadiq Fouzia,Kotori Vjosa,Mlinaric Matej,Kovac Jernej,Shafi Saeed,Khan Iqbal,Cevc Matija,Trebusak Podkrajsek Katarina,Battelino Tadej,Groselj Urh

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference36 articles.

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2. Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia.;Ajmal;Mol. Biol. Rep.,2010

3. Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: insights from SAFEHEART registry.;Alonso;J. Clin. Lipidol.,2016

4. Validation of LDLr activity as a tool to improve genetic diagnosis of familial hypercholesterolemia: a retrospective on functional characterization of LDLr variants.;Benito-Vicente;Int. J. Mol. Sci,2018

5. The complex molecular genetics of familial hypercholesterolaemia.;Berberich;Nat. Rev. Cardiol.,2019

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