SLC25A13 and neonatal intrahepatic cholestasis due to citrin deficiency: Although time- and cost-consuming, the identification of this novel deletion confirmed the feasibility of SLC25A13 cDNA cloning analysis using PBLs as a molecular tool facilitating the identification of large deletions and provided reliable evidence for the definite diagnosis of NICCD in the patient along with the mutation IVS16ins3kb of maternal origin.