Six cases of citrin deficiency in Korea

International Journal of Molecular Medicine

Volumn 20, Issue 6, 2007, Pages 809-815

  Ko, Jung Min ^a   Kim, Gu Hwan ^a   Kim, Ju Hyun ^a   Kim, Jae Young ^b   Choi, Jin Ho ^b   Ushikai, Miharu ^c   Saheki, Takeyori ^c   Kobayashi, Keiko ^c   Yoo, Han Wook ^a  

^a University of Ulsan College of Medicine   (South Korea)

^b Chungnam National University College of Medicine   (South Korea)

^c KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Adult onset type 2 citrullinemia; Citrin deficiency; Neonatal intrahepatic cholestasis; SLC25A13

Indexed keywords

CARRIER PROTEIN; MITOCHONDRIAL PROTEIN; SLC25A13 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CITRULLINEMIA; FEMALE; GENETICS; GENOTYPE; HUMAN; INFANT; INTRAHEPATIC CHOLESTASIS; KOREA; MALE; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY;

ADULT; BASE SEQUENCE; CHOLESTASIS, INTRAHEPATIC; CITRULLINEMIA; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; KOREA; MALE; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION;

EID: 42149106307     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.20.6.809     Document Type: Article

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