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Journal of Human Genetics, ISSN 1434-5161, 6/2008, Volume 53, Issue 6, pp. 534 - 545
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2013, Volume 8, Issue 9, p. e74544
Journal Article
Human Mutation, ISSN 1059-7794, 02/2002, Volume 19, Issue 2, pp. 122 - 130
We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adult‐onset type II citrullinemia (CTLN2) and found seven mutations in... 
NICCD | liver disease | mutation detection | adult‐onset type II citrullinemia | CTLN2 | neonatal intrahepatic cholestasis caused by citrin deficiency | citrin deficiency | multiple DNA diagnosis | Japanese | SLC25A13 | Mutation detection | Multiple DNA diagnosis | Adult-onset type II citrullinemia | Neonatal intrahepatic cholestasis caused by citrin deficiency | Liver disease | Citrin deficiency | ORTHOTOPIC LIVER-TRANSPLANTATION | ARGININOSUCCINATE SYNTHETASE | adult-onset type II citrullinemia | CLASSICAL CITRULLINEMIA | MESSENGER-RNA | GENE | UREA CYCLE | GENETICS & HEREDITY | II CITRULLINEMIA | Cholestasis - genetics | Japan - epidemiology | Citrullinemia - diagnosis | Gene Frequency - genetics | Cholestasis - congenital | Cholestasis - complications | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Citrullinemia - epidemiology | Male | DNA Mutational Analysis - methods | Mitochondrial Proteins | Genetic Testing - methods | Mutation, Missense - genetics | Mitochondrial Membrane Transport Proteins | Base Sequence | Hepatitis - genetics | Polymerase Chain Reaction | Female | Infant, Newborn | Citrullinemia - genetics | Cholestasis - diagnosis | Calcium-Binding Proteins - deficiency | Genotype | Mutation - genetics | Hepatitis - congenital | Hepatitis - complications | Hepatitis - diagnosis | Polymorphism, Restriction Fragment Length | Membrane Transport Proteins | Age of Onset | Alleles | Codon, Nonsense - genetics | Calcium-Binding Proteins - genetics
Journal Article
Journal of Biomedical Science, ISSN 1021-7770, 10/2018, Volume 25, Issue 1, pp. 75 - 13
BackgroundJaundice is a common symptom of inherited or acquired liver diseases or a manifestation of diseases involving red blood cell metabolism. Recent... 
Bile acids | Progressive familial intrahepatic cholestasis | Genetic liver disease | Next generation sequencing | Pediatric | Cholestasis | MEDICINE, RESEARCH & EXPERIMENTAL | GLUTAMYL-TRANSPEPTIDASE LEVELS | EXPORT PUMP DEFICIENCY | NUCLEAR RECEPTOR | CELL BIOLOGY | DCDC2 MUTATIONS CAUSE | CITRIN DEFICIENCY | CULTURED RAT HEPATOCYTES | BILE-ACID METABOLISM | FARNESOID X RECEPTOR | FAMILIAL INTRAHEPATIC CHOLESTASIS | NEONATAL SCLEROSING CHOLANGITIS | Jaundice, Obstructive - therapy | Jaundice, Obstructive - etiology | Cholestasis, Intrahepatic - genetics | Cholestasis, Intrahepatic - diagnosis | Humans | Jaundice, Obstructive - genetics | Jaundice, Obstructive - diagnosis | Cholestasis, Intrahepatic - complications | Cholestasis, Intrahepatic - therapy | Jaundice | Liver diseases | Diagnosis | Neonates | Inborn errors of metabolism | Syngeneic grafts | Alagille syndrome | Liver | Biological evolution | Medical services | Disorders | Homeostasis | Transplantation | Genomes | Cholic acid | Drug development | Defects | Gene sequencing | Salt | Red blood cells | Allografts | Metabolites | Intestine | Rodents | Surgery | Differential diagnosis | Children | Medical research | Phenotypes | Kidneys | Medical treatment | Cholangitis | Metabolism | Bile salts | Diseases | Cirrhosis | Molecular modelling | Acids | Sodium | Fibrosis | Kidney diseases | Chenodeoxycholic acid | Transporter | Liver transplantation | Bile
Journal Article
Journal Article