Molecular genetics of citrullinemia types I and II

Clinica Chimica Acta

Volumn 431, Issue , 2014, Pages 1-8

  Woo, Hye In ^a   Park, Hyung Doo ^a   Lee, Yong Wha ^b  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Soonchunhyang University College of Medicine   (South Korea)

Author keywords

ASS1; CTLN1; CTLN2; Genotype phenotype; SLC25A13

Indexed keywords

ARGININE; ARGININOSUCCINATE SYNTHASE; ARGININOSUCCINIC ACID; CITRULLINE; GLYCINE; CARRIER PROTEIN; SLC25A13 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ASS1 GENE; CITRULLINEMIA; CITRULLINEMIA TYPE II; GENE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; SLC25A13 GENE; ANIMAL; GENETICS; GENOTYPE; METABOLISM; MUTATION;

ANIMALS; ARGININOSUCCINATE SYNTHASE; CITRULLINEMIA; GENOTYPE; HUMANS; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION;

EID: 84893917769     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2014.01.032     Document Type: Review

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