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156 related items for PubMed ID: 27256231

  • 1. [Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency].
    Gong ZW, Han LS, Ye J, Qiu WJ, Zhang HW, Yu YG, Liang LL, Gao XL, Wang Y, Ji WJ, Gu XF.
    Zhonghua Er Ke Za Zhi; 2016 Jun 02; 54(6):437-40. PubMed ID: 27256231
    [Abstract] [Full Text] [Related]

  • 2. Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.
    Yokoi K, Nakajima Y, Inagaki H, Tsutsumi M, Ito T, Kurahashi H.
    BMC Med Genet; 2018 Dec 12; 19(1):210. PubMed ID: 30541480
    [Abstract] [Full Text] [Related]

  • 3. Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene.
    Quental R, Azevedo L, Rubio V, Diogo L, Amorim A.
    Clin Genet; 2009 May 12; 75(5):457-64. PubMed ID: 19475717
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  • 4. Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency.
    Li S, Cai Y, Shi C, Liu M, Liu B, Lin L, Xiao X, Hao H.
    Med Sci Monit; 2018 Oct 18; 24():7431-7437. PubMed ID: 30333473
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  • 5. [Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].
    Sun WH, Yang Y, Zhang YP, Li XT, Zhang M, Cao Y, Wang Y.
    Zhonghua Er Ke Za Zhi; 2011 May 18; 49(5):356-60. PubMed ID: 21624287
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  • 6. [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 18; 30(2):195-8. PubMed ID: 23568734
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  • 11. A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
    Mohamed S, Hamad MH, Kondkar AA, Abu-Amero KK.
    Saudi Med J; 2015 Oct 18; 36(10):1229-32. PubMed ID: 26446336
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  • 12. [Sanger sequencing for the diagnosis of spinal muscular atrophy patients with survival motor neuron gene 1 compound heterozygous mutation].
    Yang L, Cao YY, Qu YJ, Bai JL, Wang H, Jin YW, Han YL, Song F.
    Zhonghua Yi Xue Za Zhi; 2017 Feb 14; 97(6):418-423. PubMed ID: 28219127
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  • 13. [Genetic diagnosis of Duchenne/Becker muscular dystrophy by MLPA].
    Zhang Y, Liu X, He R, Ma H, Zhao Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Jun 14; 31(3):338-43. PubMed ID: 24928015
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  • 15. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
    Yoo HW, Kim GH, Lee DH.
    J Inherit Metab Dis; 1996 Jun 14; 19(1):31-42. PubMed ID: 8830175
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  • 17. [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 14; 31(5):565-9. PubMed ID: 25297582
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  • 18. 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 Oct 14; 53(5):229-40. PubMed ID: 18204299
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  • 20. Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.
    Arranz JA, Riudor E, Marco-Marín C, Rubio V.
    J Inherit Metab Dis; 2007 Apr 14; 30(2):217-26. PubMed ID: 17334707
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