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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發表在:Front Genet
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Frontiers Media S.A. 2020
主題:
Genetics
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7528874/
https://ncbi.nlm.nih.gov/pubmed/33093846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.572176
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