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Volumn 30, Issue 12, 2009, Pages 1601-1603

A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family

Author keywords

[No Author keywords available]

Indexed keywords

ARGINASE;

EID: 74749103332     PISSN: 03795284     EISSN: 16583175     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (13)

References (13)
  • 1
    • 13444278657 scopus 로고    scopus 로고
    • Hyperargininemia due to liver arginase deficiency
    • Crombez EA, Cederbaum SD. Hyperargininemia due to liver arginase deficiency. Mol Genet Metab 2005; 84: 243-251.
    • (2005) Mol Genet Metab , vol.84 , pp. 243-251
    • Crombez, E.A.1    Cederbaum, S.D.2
  • 2
    • 0025291052 scopus 로고
    • Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene
    • Haraguchi Y, Aparicio JM, Takiguchi M, Akaboshi I, Yoshino M, Mori M, et al. Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene. J Clin Invest 1990; 86: 347-350.
    • (1990) J Clin Invest , vol.86 , pp. 347-350
    • Haraguchi, Y.1    Aparicio, J.M.2    Takiguchi, M.3    Akaboshi, I.4    Yoshino, M.5    Mori, M.6
  • 4
    • 0026746741 scopus 로고
    • Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia
    • Uchino T, Haraguchi Y, Aparicio JM, Mizutani N, Higashikawa M, Naitoh H, et al. Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. Am J Hum Genet 1992; 51: 1406-1412.
    • (1992) Am J Hum Genet , vol.51 , pp. 1406-1412
    • Uchino, T.1    Haraguchi, Y.2    Aparicio, J.M.3    Mizutani, N.4    Higashikawa, M.5    Naitoh, H.6
  • 6
    • 0028015643 scopus 로고
    • Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia
    • Vockley JG, Tabor DE, Kern RM, Goodman BK, Wissmann PB, Kang DS et al. Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia. Hum Mut 1994; 4: 150-154.
    • (1994) Hum Mut , vol.4 , pp. 150-154
    • Vockley, J.G.1    Tabor, D.E.2    Kern, R.M.3    Goodman, B.K.4    Wissmann, P.B.5    Kang, D.S.6
  • 8
    • 9644307928 scopus 로고    scopus 로고
    • Prenatal diagnosis for arginase deficiency by secondtrimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis
    • Korman SH, Gutman A, Stemmer E, Kay BS, Ben-Neriah Z, Zeigler M. Prenatal diagnosis for arginase deficiency by secondtrimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis. Prenat Diagn 2004; 24: 857-860.
    • (2004) Prenat Diagn , vol.24 , pp. 857-860
    • Korman, S.H.1    Gutman, A.2    Stemmer, E.3    Kay, B.S.4    Ben-Neriah, Z.5    Zeigler, M.6
  • 9
    • 0033208662 scopus 로고    scopus 로고
    • Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia
    • Cardoso ML, Martins E, Vasconcelos R, Vilarinho L, Rocha J. Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. Hum Mut 1999; 14: 355-356.
    • (1999) Hum Mut , vol.14 , pp. 355-356
    • Cardoso, M.L.1    Martins, E.2    Vasconcelos, R.3    Vilarinho, L.4    Rocha, J.5
  • 10
    • 0026069905 scopus 로고
    • Effect of an adjacent base on detection of a point mutation by restriction enzyme digestion
    • Klein D, Dodson AE, Tabor DE, Cederbaum SD, Grody WW. Effect of an adjacent base on detection of a point mutation by restriction enzyme digestion. Somat Cell Mol Genet 1991; 17: 369-375.
    • (1991) Somat Cell Mol Genet , vol.17 , pp. 369-375
    • Klein, D.1    Dodson, A.E.2    Tabor, D.E.3    Cederbaum, S.D.4    Grody, W.W.5
  • 11
    • 2642557350 scopus 로고    scopus 로고
    • Genetic approach to prenatal diagnosis in urea cycle defects
    • Häberle J, Koch HG. Genetic approach to prenatal diagnosis in urea cycle defects. Prenat Diagn 2004; 24: 378-383.
    • (2004) Prenat Diagn , vol.24 , pp. 378-383
    • Häberle, J.1    Koch, H.G.2
  • 12
    • 0004222748 scopus 로고    scopus 로고
    • Updated 22 July 2009. Accessed 15 August 2009, Available from URL
    • Rozen S, Skaletsky HJ. Primer3. [Updated 22 July 2009. Accessed 15 August 2009]. Available from URL: http://frodo. wi.mit.edu
    • Primer3
    • Rozen, S.1    Skaletsky, H.J.2
  • 13
    • 33750375590 scopus 로고    scopus 로고
    • Genetic disorders in the Arab world
    • Al-Gazali L, Hamamy H, Al-Arrayad S. Genetic disorders in the Arab world. BMJ 2006; 333: 831-834.
    • (2006) BMJ , vol.333 , pp. 831-834
    • Al-Gazali, L.1    Hamamy, H.2    Al-Arrayad, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.