Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis

BACKGROUND: Homozygous Familial Hypercholesterolemia (HoFH) is an inherited recessive condition associated with extremely high levels of low‐density lipoprotein (LDL) cholesterol in affected individuals. It is usually caused by homozygous or compound heterozygous functional mutations in the LDL rece...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Wong, Karen H.Y., Levy‐Sakin, Michal, Ma, Walfred, Gonzaludo, Nina, Mak, Angel C.Y., Vaka, Dedeepya, Poon, Annie, Chu, Catherine, Lao, Richard, Balamir, Melek, Grenville, Zoe, Wong, Nicolas, Kane, John P., Kwok, Pui‐Yan, Malloy, Mary J., Pullinger, Clive R.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6900368/
https://ncbi.nlm.nih.gov/pubmed/31617323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1007
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