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DC Field | Value | Language |
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dc.contributor.author | Pleven, Adrian | - |
dc.contributor.author | Said-Conti, Valerie | - |
dc.contributor.author | Borg Carbott, Francesca | - |
dc.contributor.author | Cassar, Karen | - |
dc.contributor.author | Bezzina Wettinger, Stephanie | - |
dc.contributor.author | Farrugia, Rosienne | - |
dc.date.accessioned | 2022-04-05T09:01:12Z | - |
dc.date.available | 2022-04-05T09:01:12Z | - |
dc.date.issued | 2017-09 | - |
dc.identifier.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. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar/handle/123456789/93017 | - |
dc.description.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. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | Springer | en_GB |
dc.rights | info:eu-repo/semantics/closedAccess | en_GB |
dc.subject | Kidneys -- Diseases -- Malta | en_GB |
dc.subject | Polycystic kidney disease -- Malta -- Case studies | en_GB |
dc.subject | Genetic disorders | en_GB |
dc.subject | Polycystic kidney disease -- Genetic aspects | en_GB |
dc.title | ADPKD mutation in a small island population | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
dc.identifier.doi | 10.1007/s00467-017-3753-x | - |
dc.publication.title | Pediatric Nephrology | en_GB |
Appears in Collections: | Scholarly Works - FacHScABS |
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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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