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Journal Abstract Search

225 related items for PubMed ID: 9286441

  • 21. Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.
    Tuchman M, Holzknecht RA, Gueron AB, Berry SA, Tsai MY.
    Pediatr Res; 1992 Nov; 32(5):600-4. PubMed ID: 1480464
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  • 23. In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.
    Suriano G, Azevedo L, Novais M, Boscolo B, Seruca R, Amorim A, Ghibaudi EM.
    Hum Mol Genet; 2007 Sep 15; 16(18):2209-14. PubMed ID: 17613537
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  • 24. [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 15; 30(2):195-8. PubMed ID: 23568734
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  • 28. Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency.
    Matsuda I, Nagata N, Matsuura T, Oyanagi K, Tada K, Narisawa K, Kitagawa T, Sakiyama T, Yamashita F, Yoshino M.
    Am J Med Genet; 1991 Jan 15; 38(1):85-9. PubMed ID: 2012137
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  • 32. Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
    Storkanova G, Vlaskova H, Chuzhanova N, Zeman J, Stranecky V, Majer F, Peskova K, Luksan O, Jirsa M, Hrebicek M, Dvorakova L.
    Clin Genet; 2013 Dec 15; 84(6):552-9. PubMed ID: 23278509
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  • 35. Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.
    Oppliger Leibundgut EO, Wermuth B, Colombo JP, Liechti-Gallati S.
    Hum Mutat; 1996 Dec 15; 8(4):333-9. PubMed ID: 8956038
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  • 37. [Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].
    Chen Z, Wen P, Wang G, Liu X, Chen L, Chen S, Wan L, Cui D, Shang Y, Li C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct 15; 31(5):565-9. PubMed ID: 25297582
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