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The Association between <i>SLC25A15</i> Gene Polymorphisms and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome: Using In Silico Analysis

2019-09-30

Abstract excerpt

<h4>Background</h4> Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive inborn error of the urea cycle. It is caused by mutations in the SLC25A15 gene that codes the mitochondrial ornithine transporter. The aim of this study is to detect and identify the pathogenic SNPs in SLC25A15 gene through a combination set of bioinformatics tools and their effect on the structure an...

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Literature Corpus work
b288bd4f-8757-5990-a80c-d70407949c33
DOI
10.1101/786301
Open publication

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