2021 Volume 6 - Issue 1
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February 19, 2021 Review ArticleImportance of genome-wide sequencing and MLPA techniques in gene diagnosis for nail patella syndrome
Abstract Nail patella syndrome (NPS) is a rare autosomal dominant hereditary disease caused by mutations in LMX1B gene, which characterized by nail malformations, patellar =hypoplasia or absence. The development of technology for gene diagnosis provided cond.....
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November 11, 2021 Review Article
Abstract Sickle cell disease is one of the most common monogenic causes of hemolytic anemia worldwide. The main pathophysiology is based on the single nucleotide polymorphism resulting in hemoglobin polymerization leading to sickle red blood cells. The sickle.....
