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Journal Abstract Search

156 related items for PubMed ID: 27256231

  • 21.
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  • 22. Dystrophin gene mutation analysis in Iranian males and females using multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification methods.
    Khordadpoor-Deilamani F, Akbari MT, Nafissi S, Zamani G.
    Genet Test Mol Biomarkers; 2011 Dec; 15(12):893-9. PubMed ID: 21815800
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  • 24. [Clinical and gene mutation analyses of three patients with ornithine carbamoyltransferase deficiency].
    Mo WQ, Liu L, Chen YY, Cheng J, Li XZ, Zhou ZH, Mao XJ, Zhang W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun; 28(3):328-31. PubMed ID: 21644234
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  • 27. Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
    Climent C, Rubio V.
    Hum Mutat; 2002 Feb; 19(2):185-6. PubMed ID: 11793483
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  • 28. [Clinical application of multiplex ligation-dependent probe amplification for the detection exonic copy number alterations in the Dystrophin gene].
    Long F, Sun W, Ji X, Li XH, Liu XQ, Jiang WT, Tao J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):699-704. PubMed ID: 22161109
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  • 29. Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications.
    Kim MJ, Cho SI, Chae JH, Lim BC, Lee JS, Lee SJ, Seo SH, Park H, Cho A, Kim SY, Kim JY, Park SS, Seong MW.
    J Mol Diagn; 2016 Mar; 18(2):253-9. PubMed ID: 26743743
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  • 30. [Analysis of clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency].
    Wang Y, Liu X, Wu H, Liu H, Wang C, He X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):148-51. PubMed ID: 24711021
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  • 34. Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay.
    Nuzzo F, Paraboschi EM, Straniero L, Pavlova A, Duga S, Castoldi E.
    Haemophilia; 2015 Jan; 21(1):140-7. PubMed ID: 25438872
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  • 35. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG.
    Hum Mutat; 2002 Feb; 19(2):93-107. PubMed ID: 11793468
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  • 38. Four new mutations in the ornithine transcarbamylase gene.
    Reish O, Plante RJ, Tuchman M.
    Biochem Med Metab Biol; 1993 Oct; 50(2):169-75. PubMed ID: 8260194
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