Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report

Familial hypercholesterolemia is an autosomal dominant genetic disease characterized by earlier elevated Low-Density Lipoprotein (LDL) cholesterol levels and increased risk for premature Myocardial Infarction (MI). Albeit the diagnosis of some medical Familial Hypercholesterolemia (FH) cases are d...

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Bibliographic Details
Main Author:	Edem Nuglozeh
Format:	Article
Language:	English
Published:	JCDR Research and Publications Private Limited 2017-06-01
Series:	Journal of Clinical and Diagnostic Research
Subjects:	cholesterol diabetes exome sequencing hypercholesterolemia
Online Access:	https://jcdr.net/articles/PDF/10143/28156_CE[Ra]_F(Sh)_PF1(RU_VT_NE)_PFA(NC).pdf

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