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https://www.um.edu.mt/library/oar/handle/123456789/93017| Title: | ADPKD mutation in a small island population |
| Authors: | Pleven, Adrian Said-Conti, Valerie Borg Carbott, Francesca Cassar, Karen Bezzina Wettinger, Stephanie Farrugia, Rosienne |
| Keywords: | Kidneys -- Diseases -- Malta Polycystic kidney disease -- Malta -- Case studies Genetic disorders Polycystic kidney disease -- Genetic aspects |
| Issue Date: | 2017-09 |
| Publisher: | Springer |
| Citation: | Pleven, A., Said-conti, V., Borg-carbott, F., Attard, R., Cassar, K., Wettinger, S. B., & Farrugia, R. (2017). ADPKD Mutation in a small island population. Pediatric Nephrology 32(9), 1765. |
| Abstract: | Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 or PKD2. PKD1 mutations account for 85% of cases and cause more severe disease with earlier onset of end- stage. ADPKD accounts for 10% of end-stage renal disease in Maltese adults who reach this stage generally between 40 and 50 years The mu- tation in this population has not yet been described. |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/93017 |
| Appears in Collections: | Scholarly Works - FacHScABS |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| ADPKD_Mutation_in_a_small_island_population(2017)-123.pdf Restricted Access | 85 kB | Adobe PDF | View/Open Request a copy |
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