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The Human Argininosuccinate Synthetase Locus and Citrullinemia

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Advances in Human Genetics 15

Abstract

Argininosuccinate synthetase is an enzyme which functions in the urea cycle in ureotelic animals, and genetic deficiency of the enzyme in man causes an inborn error of metabolism, citrullinemia. The purpose of this chapter is to summarize recent developments in the molecular analysis of the human argininosuccinate synthetase locus and to relate this information to available clinical, metabolic, enzymatic, and genetic information. We also will discuss the opportunities to study gene regulation in tissue culture using this locus.

An erratum to this chapter is available at http://dx.doi.org/10.1007/978-1-4615-8356-1_6

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Author notes

  1. Hans-Georg O. Bock

    Present address: University of Mississippi Medical Center, Jackson, Mississippi, 39216, USA

  2. Svend O. Freytag

    Present address: University of Michigan Medical School, Ann Arbor, Michigan, 48109, USA

  3. Tsung-Sheng Su

    Present address: Veterans General Hospital, Taipei, Taiwan

Authors and Affiliations

  1. Departments of Pediatrics and Cell Biology, Baylor College of Medicine, Houston, Texas, 77030, USA

    Arthur L. Beaudet

  2. Department of Pediatrics and Biochemistry, Baylor College of Medicine, Houston, Texas, 77030, USA

    William E. O’Brien

  3. Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA

    Hans-Georg O. Bock, Svend O. Freytag & Tsung-Sheng Su

Authors
  1. Arthur L. Beaudet
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  2. William E. O’Brien
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  3. Hans-Georg O. Bock
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  4. Svend O. Freytag
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  5. Tsung-Sheng Su
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Editor information

Editors and Affiliations

  1. University of Pennsylvania, Philadelphia, USA

    Harry Harris (Harnwell Professor of Human Genetics) (Harnwell Professor of Human Genetics)

  2. Mount Sinai School of Medicine, The City University of New York, USA

    Kurt Hirschhorn (Herbert H. Lehman Professor and Chairman of Pediatrics) (Herbert H. Lehman Professor and Chairman of Pediatrics)

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© 1986 Plenum Press, New York

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Beaudet, A.L., O’Brien, W.E., Bock, HG.O., Freytag, S.O., Su, TS. (1986). The Human Argininosuccinate Synthetase Locus and Citrullinemia. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics 15. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8356-1_3

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  • DOI: https://doi.org/10.1007/978-1-4615-8356-1_3

  • Publisher Name: Springer, Boston, MA

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