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

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

Homozygous familial hypercholesterolemia (HoFH) and compound heterozygous familial hypercholesterolemia (cHeFH) are rare disorders generated by disease-causing variants in both alleles of the LDLR or other familial hypercholesterolemia (FH)-related genes. HoFH and cHeFH are characterized by severely...

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Bibliographic Details
Main Authors: Tatiana Marusic, Ursa Sustar, Fouzia Sadiq, Vjosa Kotori, Matej Mlinaric, Jernej Kovac, Saeed Shafi, Iqbal Khan, Matija Cevc, Katarina Trebusak Podkrajsek, Tadej Battelino, Urh Groselj
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Genetics
Subjects:
familial hypercholesterolaemia
FH
homozygous
compound heterozygous
LDLR gene
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.572176/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.572176/full

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