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DC Field | Value | Language |
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dc.date.accessioned | 2018-03-16T14:39:30Z | - |
dc.date.available | 2018-03-16T14:39:30Z | - |
dc.date.issued | 2017-05 | - |
dc.identifier.citation | Zammit, E., Felice, A. E., & Said Conti, V. (2017). Whole-genome sequencing for CAKUT in an island population. EURenOmics Joint Annual Meeting. Berlin, Germany. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar//handle/123456789/28054 | - |
dc.description.abstract | Congenital anomalies of the kidney and urinary tract (CAKUT) are a broad spectrum of structural malformations of varying severity and renal outcome.1 They occur in 3-6 per 1,000 live births either as an isolated characteristic, in combination or as part of a multi-organ malformation syndrome. Dialysis and kidney transplantation have been life-saving to patients with the most severe forms of CAKUT. However, the disease burden is high. In recent years, several studies have been undertaken with the aim to uncover the underlying cause of the disease. Familial cases2 and mouse models3 of CAKUT suggest that genetics plays an important role in the development of renal malformations. A number of genes have been implicated with various modes of inheritance, but in most patients the disease-causing mutation remains to be discovered. Here, we report on our progress in elucidating the genetics of CAKUT in cases of Maltese origin using whole-genome sequencing (WGS) in 10 unrelated patients. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | University of Malta. Department of Physiology and Biochemistry | en_GB |
dc.rights | info:eu-repo/semantics/openAccess | en_GB |
dc.subject | Cakut | en_GB |
dc.subject | Kidneys -- Diseases -- Malta | en_GB |
dc.title | Whole-genome sequencing for CAKUT in an island population | en_GB |
dc.type | conferenceObject | 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.bibliographicCitation.conferencename | EURenOmics Joint Annual Meeting (2017) | en_GB |
dc.bibliographicCitation.conferenceplace | Berlin, Germany, 03-05/05/2017 | en_GB |
dc.description.reviewed | N/A | en_GB |
dc.contributor.creator | Zammit, Esther | - |
dc.contributor.creator | Felice, Alex | - |
dc.contributor.creator | Said Conti, Valerie | - |
Appears in Collections: | Scholarly Works - FacM&SPB |
Files in This Item:
File | Description | Size | Format | |
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Whole-genome_sequencing_for_CAKUT_in_an_island_population_2017.pdf | 290.77 kB | Adobe PDF | View/Open |
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