Abstract:Introduction: Argininemia is an autosomal recessive uncommon metabolic condition, caused by mutations in arginase enzyme. Variable clinical symptoms of argininemia might bring about a delayed diagnosis. In order to prove an argininemia condition, a genetic test result is needed. This study aims to describe two cases of argininemia homozygote mutations.
Materials and Methods: Whole exome sequencing (WES) was utilized to detect disease causing variants. To prove adverse impacts of a novel variant and in silico a… Show more
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