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Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia
(
Elsevier
, 2020 , Article)
Propionic Acidemia (PA) is an inborn error of metabolism caused by variants in the or genes, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here, we report a 2 year-old Egyptian boy with PA ...
Genetic Epidemiology of Beta-Thalassemia in the Maldives: 23 years of a Beta-Thalassemia Screening Program.
(
Elsevier
, 2020 , Article)
The Maldives is an archipelago of 407,660 people according to population census of 2014, made up of 20 atolls, which has one of the highest prevalence of β-thalassemia worldwide. However, there is a dearth of studies related ...