Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels: mutations in the SLC25A13 gene.
Journal of the neurological sciences2001Maruyama H, Ogawa M, Nishio T, et al.
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MeSH
Calcium-Binding ProteinsCitrullineCitrullinemiaDNA Mutational AnalysisDiagnosis, DifferentialExonsGene DeletionHeterozygoteHumansMaleMembrane Transport ProteinsMiddle AgedMitochondria, LiverMitochondrial Membrane Transport ProteinsMitochondrial ProteinsMutation
DOI 10.1016/s0022-510x(01)00646-3
PMID 11718753
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