Characterization of late-onset citrullinemia 1 in a Korean patient: Confirmation by argininosuccinate synthetase gene mutation analysis

Journal of Biochemistry and Molecular Biology

Volumn 39, Issue 4, 2006, Pages 400-405

  Kim, In Suk ^b   Ki, Chang Seok ^a   Kim, Jong Won ^a   Lee, Munhyang ^a   Jin, Dong Kyu ^a   Lee, Soo Youn ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Gyeongsang National University School of Medicine   (South Korea)

Author keywords

Argininosuccinate synthetase (ASS); Citrullinemia; Hyperammonemia; Korean; Mass spectrometry; Mutation

Indexed keywords

ARGININOSUCCINATE SYNTHASE; CITRULLINE;

ARTICLE; BLOOD; BRAIN; CASE REPORT; CITRULLINEMIA; EXON; FEMALE; GENE DUPLICATION; GENETICS; HUMAN; INFANT; KOREA; MALE; METABOLISM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SEIZURE; URINE;

ARGININOSUCCINATE SYNTHASE; BRAIN; CITRULLINE; CITRULLINEMIA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DUPLICATION; HUMANS; INFANT; KOREA; MALE; MUTATION, MISSENSE; SEIZURES;

EID: 33747586047     PISSN: 12258687     EISSN: 12258687     Source Type: Journal    
DOI: 10.5483/bmbrep.2006.39.4.400     Document Type: Article

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