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4. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation. Ogino W, Takeshima Y, Nishiyama A, Okizuka Y, Yagi M, Tsuneishi S, Saiki K, Kugo M, Matsuo M. Kobe J Med Sci; 2007; 53(5):229-40. PubMed ID: 18204299 [Abstract] [Full Text] [Related]
6. Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations. Gao J, Gao F, Hong F, Yu H, Jiang P. Am J Emerg Med; 2015 Mar; 33(3):474.e1-3. PubMed ID: 25227973 [Abstract] [Full Text] [Related]
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