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Type II Citrullinemia (Citrin Deficiency): A Mysterious Disease caused by a Defect of Calcium-Binding Mitochondrial Carrier Protein

  • Kobayashi K
  • Iijima M
  • Yasuda T
  • et al.
Springer Netherlands, (2000), 565-587
DOI: 10.1007/978-94-010-0688-0_33
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Abstract

Citrullinemia (OMIM 215700) (McKusick, 1998) is an autosomal recessive disease that is caused by a deficiency of argininosuccinate synthetase (ASS; EC 6.3.4.5). The clinical, biochemical and molecular aspects of citrullinemia have been reviewed elsewhere (Walser,...

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APA

Kobayashi, K., Iijima, M., Yasuda, T., Sinasac, D. S., Yamaguchi, N., Tsui, L.-C., … Saheki, T. (2000). Type II Citrullinemia (Citrin Deficiency): A Mysterious Disease caused by a Defect of Calcium-Binding Mitochondrial Carrier Protein. In Calcium: The Molecular Basis of Calcium Action in Biology and Medicine (pp. 565–587). Springer Netherlands. https://doi.org/10.1007/978-94-010-0688-0_33

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