首页> Medicina (Kaunas, Lithuania)> Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.

Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.

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第一作者： Othman R,Alzahrani

第一单位： Department of Biology, Faculty of Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia.;Genome and Biotechnology Unit, Faculty of Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia.

作者： Othman R,Alzahrani ^[1] ; Hanan E,Alatwi ^[1] ; Amnah A,Alharbi ^[2] ; Abdulrahman H,Alessa ^[1] ; Osama M,Al-Amer ^[3] ; Abeer F R,Alanazi ^[4] ; Anwar M,Shams ^[5] ; Esra'a,Alomari ^[6] ; Abdallah Y,Naser ^[6] ; Faisal A,Alzahrani ^[7] ; Salman,Hosawi ^[8] ; Saeed M,Alghamdi ^[9] ; Wed A,Abdali ^[10] ; Imadeldin,Elfaki ^[2] ; Yousef M,Hawsawi ^[11]

作者单位： Department of Biology, Faculty of Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia.;Genome and Biotechnology Unit, Faculty of Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia. ^[1] Genome and Biotechnology Unit, Faculty of Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia.;Department of Biochemistry, Faculty of Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia. ^[2] Genome and Biotechnology Unit, Faculty of Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia.;Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia. ^[3] Department of Pharmaceutical and Biological Sciences, UCL School of Pharmacy, London WC1E 6BT, UK. ^[4] Department of Pharmacology, College of Medicine, Taif University, P.O. Box 11099, Taif 21944, Saudi Arabia. ^[5] Department of Applied Pharmaceutical Sciences and Clinical Pharmacy, Faculty of Pharmacy, Isra University, Amman 11622, Jordan. ^[6] Department of Biochemistry, Faculty of science, Embryonic Stem Cell Unit, King Fahad Center for Medical Research, King Abdulaziz University, Jeddah 21589, Saudi Arabia. ^[7] Department of Biochemistry, Faculty of Science, King AbdulAziz University, Jeddah 21589, Saudi Arabia.;Artificial Intelligence in Systems Biology Research Unit, The King Abdulaziz University and The University of Oxford Center for Artificial Intelligence for Precision Medicine, Jeddah 21589, Saudi Arabia. ^[8] Department of Medicine, King Faisal Specialist Hospital and Research Centre, P.O. Box 40047, Jeddah 21499, Saudi Arabia. ^[9] Research Center, King Faisal Specialist Hospital and Research Center, MBC J04, P.O. Box 40047, Jeddah 21499, Saudi Arabia. ^[10] Research Center, King Faisal Specialist Hospital and Research Center, MBC J04, P.O. Box 40047, Jeddah 21499, Saudi Arabia.;College of Medicine, Al-Faisal University, P.O. Box 50927, Riyadh 11533, Saudi Arabia. ^[11]

关键词 PKD2 autosomal dominant polycystic kidney disease (ADPKD)autosomal recessive polycystic kidney disease (ARPKD)end-stage renal disease ESRD polycystin-1-polycystin-2 PKD1 whole-exome sequencing