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

<i>Background:</i> Autosomal dominant polycystic kidney disease (ADPKD) is a condition usually caused by a single gene mutation and manifested by both renal and extrarenal features, eventually leading to end-stage renal disease (ESRD) by the median age of 60 years worldwide. Approximately 89% of ADP...

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Auteurs principaux:	Othman R. Alzahrani, Hanan E. Alatwi, Amnah A. Alharbi, Abdulrahman H. Alessa, Osama M. Al-Amer, Abeer F. R. Alanazi, Anwar M. Shams, Esra’a Alomari, Abdallah Y. Naser, Faisal a. Alzahrani, Salman Hosawi, Saeed M. Alghamdi, Wed A. Abdali, Imadeldin Elfaki, Yousef M. Hawsawi
Format:	Artigo
Langue:	Inglês
Publié:	MDPI AG 2022-11-01
Collection:	Medicina
Sujets:	whole-exome sequencing autosomal recessive polycystic kidney disease (ARPKD) autosomal dominant polycystic kidney disease (ADPKD) polycystin-1-polycystin-2 <i>PKD1</i> <i>PKD2</i> end-stage renal disease ESRD
Accès en ligne:	https://www.mdpi.com/1648-9144/58/11/1657
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