2021 - Volume 6 - Issue 1 Articles
-
Importance of genome-wide sequencing and MLPA techniques in gene diagnosis for nail patella syndromeReview Article | ArticleMarch 21, 2021 | Pages : 205 - 450Abstract 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.....
-
Review Article | ArticleNovember 25, 2021 | Pages : 205 - 450Abstract 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.....