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Salvi S, Dionisi-Vici C, Bertini E, Verardo M, Santorelli FM. Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Hum Mutat. 2001 Nov;18(5):460. doi: 10.1002/humu.1221. PMID: 11668643. |