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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7528874/
https://www.ncbi.nlm.nih.gov/pubmed/33093846
http://dx.doi.org/10.3389/fgene.2020.572176

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7528874/
https://www.ncbi.nlm.nih.gov/pubmed/33093846
http://dx.doi.org/10.3389/fgene.2020.572176

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