ADPKD mutation in a small island population

Pleven, Adrian; Said-Conti, Valerie; Borg Carbott, Francesca; Cassar, Karen; Bezzina Wettinger, Stephanie; Farrugia, Rosienne

Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/93017

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DC Field	Value	Language
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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