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Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria

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Journal of Inherited Metabolic Disease

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References

  • Engel K, Vuissoz JM, Eggimann S, Groux M, Berning C, Hu L, Klaus V, Moeslinger D, Mercimek-Mahmutoglu S, Stöckler S, Wermuth B, Häberle J, Nuoffer JM (2012) Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. J Inherit Metab Dis doi:10.1007/s10545-011-9357-x

  • Trevisson E, Burlina A, Doimo M, Pertegato V, Casarin A, Cesaro L, Navas P, Basso G, Sartori G, Salviati L (2009) Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. J Biol Chem 284:28926–28934

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Authors and Affiliations

  1. Clinical Genetics Unit, Department of Pediatrics, University of Padova, Via Giustiniani 3, 35128, Padova, Italy

    Mara Doimo, Eva Trevisson & Leonardo Salviati

  2. Department of Biochemistry, University of Padova, Viale G. Colombo, 3 - 35121, Padova, Italy

    Geppo Sartori

  3. Metabolic Disorders Unit, Department of Pediatrics, University of Padova, Via Giustiniani 3, 35128, Padova, Italy

    Alberto Burlina

Authors
  1. Mara Doimo
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  2. Eva Trevisson
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  3. Geppo Sartori
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  4. Alberto Burlina
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  5. Leonardo Salviati
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Corresponding author

Correspondence to Leonardo Salviati.

Additional information

Communicated by: Verena Peters

Competing interest: None declared

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Doimo, M., Trevisson, E., Sartori, G. et al. Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria. J Inherit Metab Dis 35, 557–558 (2012). https://doi.org/10.1007/s10545-011-9402-9

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  • DOI: https://doi.org/10.1007/s10545-011-9402-9

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