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

• Main Authors: Katsuyuki Yokoi (Author), Yoko Nakajima (Author), Hidehito Inagaki (Author), Makiko Tsutsumi (Author), Tetsuya Ito (Author), Hiroki Kurahashi (Author)
• Format: Book
• Published: BMC, 2018-12-01T00:00:00Z.
• Subjects: article
• Online Access: 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...