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Prenatal exclusion of ornithine transcarbamylase (OTC) by using RFLP analysis

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Journal of Inherited Metabolic Disease

Summary

The use of restriction fragment length polymorphism studies for prenatal exclusion of OTC deficiency in a carrier mother is reported.

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References

  • Becroft, D. M. O., Barry, D. M. J., Webster, D. R. and Simmonds, H. A. Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency.J. Inher. Metab. Dis. 7 (1984) 157–159

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Authors and Affiliations

  1. Department of Genetics, Kinderklinik Inselspital, Berne, Switzerland

    S. Liechti

  2. Department of Metabolism, Children's Hospital Bambino Gesù IRCCS, Salita S. Onofrio 4, 00165, Rome, Italy

    C. Dionisi Vici, M. R. M. Mazziotta, A. Bartuli & G. Sabetta

  3. Department of Clinical Chemistry, CHUV, University of Lausanne, Lausanne, Switzerland

    C. Bachmann

Authors
  1. S. Liechti
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  2. C. Dionisi Vici
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  3. C. Bachmann
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  4. M. R. M. Mazziotta
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  5. A. Bartuli
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  6. G. Sabetta
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Liechti, S., Dionisi Vici, C., Bachmann, C. et al. Prenatal exclusion of ornithine transcarbamylase (OTC) by using RFLP analysis. J Inherit Metab Dis 13, 888–890 (1990). https://doi.org/10.1007/BF01800215

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  • DOI: https://doi.org/10.1007/BF01800215

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