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https://www.um.edu.mt/library/oar/handle/123456789/145639| Title: | The use of high throughput sequencing for the identification of variants contributing to autosomal dominant polycystic kidney disease in the Maltese population |
| Authors: | Cini Masini, Maria Borg Carbott, Francesca Attard, Ritienne Pleven, Adrian Cassar, Karen Callus, Roberta A. Borg Cauchi, Angela Said Conti, Valerie Bezzina Wettinger, Stephanie Farrugia, Rosienne |
| Keywords: | Polycystic kidney disease -- Malta Human chromosome abnormalities -- Malta Genetic disorders -- Malta Kidneys -- Diseases -- Malta Kidneys -- Transplantation -- Malta |
| Issue Date: | 2022 |
| Publisher: | Springer Nature |
| Citation: | Cini Masini, M., Borg Carbott, F., Attard, R., Pleven, A., Cassar, K., Callus, R. A.,... Farrugia, R. (2022, June). The use of high throughput sequencing for the identification of variants contributing to autosomal dominant polycystic kidney disease in the Maltese population. 54th European Society of Human Genetics (ESHG) Conference, Austria. 143-144. |
| Abstract: | Introduction: Autosomal dominant polycystic Kidney Disease (ADPKD) though rare, is the most common hereditary kidney disease. It is characterized by enlarged kidneys, bilateral formation and progressive expansion of renal cysts, as well as systemic manifestations from the progression of renal disease requiring renal replacement therapy or transplantation. |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/145639 |
| Appears in Collections: | Scholarly Works - FacHScABS |
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| The_use_of_high_throughput_sequencing_for_the_identification_of_variants_contributing_to_autosomal_dominant_polycystic_kidney_disease_in_the_Maltese_population_2022.pdf | 116.87 kB | Adobe PDF | View/Open |
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