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Journal Abstract Search

211 related items for PubMed ID: 19783189

  • 21. An OTC deficiency 'phenocopy' in association with Klinefelter syndrome.
    Swarts L, Leisegang F, Owen EP, Henderson HE.
    J Inherit Metab Dis; 2007 Feb; 30(1):101. PubMed ID: 17186414
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  • 23. Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases.
    Peng J, Redman CM, Wu X, Song X, Walker RH, Westhoff CM, Lee S.
    Gene; 2007 May 01; 392(1-2):142-50. PubMed ID: 17300882
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  • 27. 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
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  • 29. Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.
    Wong LJ, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, Brundage EK, Scaglia F, Chinault AC.
    Clin Chem; 2008 Jul 12; 54(7):1141-8. PubMed ID: 18487280
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  • 30. Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.
    Segues B, Rozet JM, Gilbert B, Saugier-Veber P, Rabier D, Saudubray JM, Carré M, Rouleau FP, Menget A, Bonardi JM.
    Prenat Diagn; 1995 Aug 12; 15(8):757-61. PubMed ID: 7479595
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  • 31. Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.
    Kim GH, Choi JH, Lee HH, Park S, Kim SS, Yoo HW.
    Hum Mutat; 2006 Nov 12; 27(11):1159. PubMed ID: 17041896
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  • 34. Ornithine transcarbamylase deficiency.
    Yeh SJ, Hou WL, Tsai WS, Wu TJ, Tuchman M, Wang TR.
    J Formos Med Assoc; 1997 Jan 12; 96(1):43-5. PubMed ID: 9033181
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  • 37. Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency.
    Suess PJ, Tsai MY, Holzknecht RA, Horowitz M, Tuchman M.
    Biochem Med Metab Biol; 1992 Jun 12; 47(3):250-9. PubMed ID: 1627356
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  • 39. [Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].
    Gao H, Li W, Yan ZH, Jiang MH, Rui DR, He YS.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb 12; 20(1):19-22. PubMed ID: 12579493
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