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Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels: mutations in the SLC25A13 gene.

AuthorsH Maruyama, M Ogawa, T Nishio, K Kobayashi, T Saheki, N Sunohara
JournalJournal of the neurological sciences (J Neurol Sci) Vol. 193 Issue 1 Pg. 63 (Dec 15 2001) ISSN: 0022-510X [Print] Netherlands
PMID11718753 (Publication Type: Case Reports, Letter)
Chemical References
  • Calcium-Binding Proteins
  • Membrane Transport Proteins
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins
  • SLC25A13 protein, human
  • Citrulline
Topics
  • Calcium-Binding Proteins (genetics, metabolism)
  • Citrulline (blood, genetics)
  • Citrullinemia (blood, genetics, physiopathology)
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Exons (genetics)
  • Gene Deletion
  • Heterozygote
  • Humans
  • Male
  • Membrane Transport Proteins
  • Middle Aged
  • Mitochondria, Liver (metabolism, pathology)
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins
  • Mutation (genetics)

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