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5. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, Cheon CK, Ko JM, Lee JH, Yoo HW. J Hum Genet; 2015 Sep; 60(9):501-7. PubMed ID: 25994866 [Abstract] [Full Text] [Related]
7. Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. Climent C, García-Pérez MA, Sanjurjo P, Ruiz-Sanz JI, Vilaseca MA, Pineda M, Campistol J, Rubio V. Hum Mutat; 1999 Oct; 14(4):352-3. PubMed ID: 10502831 [Abstract] [Full Text] [Related]
12. Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene. Valik D, Sedova Z, Starha J, Zeman J, Hruba E, Dvorakova L. Acta Paediatr; 2004 May; 93(5):710-1. PubMed ID: 15174800 [Abstract] [Full Text] [Related]
13. OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients. Lee JH, Kim GH, Yoo HW, Cheon CK. Pediatr Neurol; 2014 Sep; 51(3):354-359.e1. PubMed ID: 25011434 [Abstract] [Full Text] [Related]
14. [Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency]. Meng LL, Jiang T, Qin L, Ma DY, Chen YL, Han SP, Yu ZB, Guo XR, Hu P, Xu ZF. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr; 30(2):195-8. PubMed ID: 23568734 [Abstract] [Full Text] [Related]