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Browsing by Subject "UBA5 protein"

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  • Karhu, Thomas (2016)
    The main focus of this study is a Finnish family, in which four out of eight children presented with an unidentified disease causing a grave developmental disorder. A genetic cause for this disorder was sought by utilizing whole exome sequencing. Both parents, two affected siblings and one healthy sibling were sequenced. After variant filtering and analysis, only the candidate gene UBA5 passed the filtering criteria. The results were validated using Sanger sequencing. Both affected individuals were shown to have compound heterozygous variants of this gene, with one of the variants being novel. No cases of disease in humans associated with UBA5 have prior to this study been reported. However, other unrelated patients with a similar phenotype have since been found to possess pathogenic variants in the gene UBA5, which confirms the claim that it's the disease-causing gene. Therefore, this study enhances our knowledge of the gene's physiological significance.