title: A novel citrin deficiency mutation in a cholestatic infant.
authors.affiliation: *Department of Pediatrics †Department of Medical Genetics, Montreal Children's Hospital, Montreal, Quebec, Canada.
authors.forename: Amanda
authors.initials: A
authors.lastname: Ricciuto
authors.forename: Daniela
authors.initials: D
authors.lastname: Buhas
mesh_terms: D002135:Calcium-Binding Proteins / Q000172:deficiency*; D002779:Cholestasis / Q000097:blood* / Q000235:genetics*; D020159:Citrullinemia / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D027361:Organic Anion Transporters / Q000172:deficiency*
chemical_list: D002135:Calcium-Binding Proteins; D033681:Mitochondrial Membrane Transport Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; C008822:citrin