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

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

Abstract 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...

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Bibliographic Details
Main Authors: Karen H.Y. Wong, Michal Levy‐Sakin, Walfred Ma, Nina Gonzaludo, Angel C.Y. Mak, Dedeepya Vaka, Annie Poon, Catherine Chu, Richard Lao, Melek Balamir, Zoe Grenville, Nicolas Wong, John P. Kane, Pui‐Yan Kwok, Mary J. Malloy, Clive R. Pullinger
Format: Article
Language:English
Published: Wiley 2019-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
10xG linked‐reads whole genome sequencing
dyslipidemia
LDL
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1007

Internet

https://doi.org/10.1002/mgg3.1007

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