ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes
Abdulrahman Al‐Hussaini, Khurram Lone, Muhammed Salman Bashir, Sami Alrashidi, Mosa Fagih, Alanoud Alanazi, Salem AlYaseen, Abdulaziz Almayouf, Muhanad Alruwaithi, Ali Asery
Topics & Concepts
Frameshift mutationMissense mutationProgressive familial intrahepatic cholestasisCholestasisMedicineUrsodeoxycholic acidPhenotypeGeneticsInternal medicineGastroenterologyBiologyGeneTransplantationLiver transplantationDrug Transport and Resistance MechanismsHepatitis B Virus StudiesPediatric Hepatobiliary Diseases and Treatments