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Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

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Journal of Inherited Metabolic Disease

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Authors and Affiliations

  1. Universität Kinderklinik Muenster, Albert-Schweitzer-Str. 33, 48149, Muenster, Germany

    M. Linnebank, A. Homberger, B. Rapp, C. Winter, T. Marquardt, E. Harms & H. G. Koch

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  1. M. Linnebank
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  2. A. Homberger
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  3. B. Rapp
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  4. C. Winter
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  5. T. Marquardt
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  6. E. Harms
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  7. H. G. Koch
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Linnebank, M., Homberger, A., Rapp, B. 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 23, 308–312 (2000). https://doi.org/10.1023/A:1005690005439

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  • DOI: https://doi.org/10.1023/A:1005690005439

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