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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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
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Original Articles
On-line přístup: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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