Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report

• Hauptverfasser: Katsuyuki Yokoi (Verfasst von), Yoko Nakajima (Verfasst von), Hidehito Inagaki (Verfasst von), Makiko Tsutsumi (Verfasst von), Tetsuya Ito (Verfasst von), Hiroki Kurahashi (Verfasst von)
• Format: Buch
• Veröffentlicht: BMC, 2018-12-01T00:00:00Z.
• Schlagworte: article
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Abstract Background Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Although a total of 417 disease-causing mutations in OTC have been reported, structural abnormalities in this gene are rare. We here d...