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

• Glavni autori: Katsuyuki Yokoi (Autor), Yoko Nakajima (Autor), Hidehito Inagaki (Autor), Makiko Tsutsumi (Autor), Tetsuya Ito (Autor), Hiroki Kurahashi (Autor)
• Format: Knjiga
• Izdano: BMC, 2018-12-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

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...