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A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency

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References

  1. Finkelstein JE, Francomano CA, Brusilow SW, Traystman MD (1990) Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.Genomics 7: 167–172.

  2. Hata A, Matsuura T, Setoyama C et al (1991) A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.Hum Genet 87: 28–32.

  3. Matsuura T, Hoshide R, Setoyama C et al (1993) Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns.Hum Genet 92: 49–56.

  4. Oppliger E, Liechti-Gallati S, Colombo J-P, Wermuth B (1994) Ornithine transcarbamylase deficiency: identification of nine new mutations in heterozygous symptomatic females. VI.International Congress, Inborn Errors of Metabolism, Milano (abstract).

  5. Zimmer KP, Matsuda I, Matsuura T et al (1995) Ultrastructural, immunocytochemical and stereological investigation of hepatocytes in a patient with a mutation of the ornithine transcarbamylase gene.Eur J Cell Biol, in press.

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Correspondence to T. Deufel.

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Zimmer, K.-., Matsuura, T., Colombo, J.-. et al. A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency. J Inherit Metab Dis 18, 356–357 (1995). https://doi.org/10.1007/BF00710430

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Keywords

  • Public Health
  • Internal Medicine
  • Codon
  • Point Mutation
  • Ornithine