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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 due...

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Podrobná bibliografie
Vydáno v:J Clin Diagn Res
Hlavní autor: Nuglozeh, Edem
Médium: Artigo
Jazyk:Inglês
Vydáno: JCDR Research and Publications (P) Limited 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5535388/
https://ncbi.nlm.nih.gov/pubmed/28764195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7860/JCDR/2017/28156.10143
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