Two Novel Mutations in the Argininosuccinate Lyase Gene in Iranian Patients and Literature Review

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Article Notes and Dates
To Cite : Rostami P, Häberle J, Setoudeh A, Zschocke J, Sayarifard F. et al. Two Novel Mutations in the Argininosuccinate Lyase Gene in Iranian Patients and Literature Review, Iran J Pediatr. 2017 ;27(3):e7666. doi: 10.5812/ijp.7666.
Abstract
1. Introduction
2. Case Presentation
3. Discussion
References
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  • 2. Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, et al. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. Hum Mutat. 2007; 28(7): 694-702[DOI][PubMed]
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  • 4. Mori T, Nagai K, Mori M, Nagao M, Imamura M, Iijima M, et al. Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency. Pediatr Dev Pathol. 2002; 5(6): 597-601[DOI][PubMed]
  • 5. Ficicioglu C, Mandell R, Shih VE. Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. Mol Genet Metab. 2009; 98(3): 273-7[DOI][PubMed]
  • 6. Linnebank M, Homberger A, Rapp B, Winter C, Marquardt T, Harms E, et al. Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene. J Inherit Metab Dis. 2000; 23(4): 308-12[PubMed]
  • 7. Linnebank M, Tschiedel E, Haberle J, Linnebank A, Willenbring H, Kleijer WJ, et al. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Hum Genet. 2002; 111(4-5): 350-9[DOI][PubMed]
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