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

Background: 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 ADPKD pati...

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Detalles Bibliográficos
Autores principales: Alzahrani, Othman R., Alatwi, Hanan E., Alharbi, Amnah A., Alessa, Abdulrahman H., Al-Amer, Osama M., Alanazi, Abeer F. R., Shams, Anwar M., Alomari, Esra’a, Naser, Abdallah Y., Alzahrani, Faisal a., Hosawi, Salman, Alghamdi, Saeed M., Abdali, Wed A., Elfaki, Imadeldin, Hawsawi, Yousef M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9692281/
https://www.ncbi.nlm.nih.gov/pubmed/36422197
http://dx.doi.org/10.3390/medicina58111657

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