Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene
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DOI: 10.1080/13816810.2020.1870149
Abstract: ABSTRACT Background: Gyrate Atrophy (GA) is a rare autosomal recessive disorder characterized by progressive chorioretinal degeneration. It is caused due to mutations in OAT gene that encodes a defective ornithine-δ-aminotransferase enzyme. We aim to identify… read more here.
Keywords: nonsense mutation; gyrate atrophy; oat gene; mutation ... See more keywords