Martell, Henry, Wong, Kathie Alexina, Martin, Juan, Kassam, Ziyan, Thomas, Kay, Wass, Mark N. (2017) Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine. BMC Genomics, 18 (Sup 5). Article Number 550. ISSN 1471-2164. (doi:10.1186/s12864-017-3913-1) (KAR id:61898)
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Official URL https://dx.doi.org/10.1186/s12864-017-3913-1 |
Abstract
Background
Results
Conclusions
The results of this study are promising and highlight the areas of research which must now be pursued to better understand how mutations in SLC3A1 and SLC7A9 cause cystinuria. The application of our approach to a larger data set is essential, but we have shown that computational methods could play an important role in designing more effective personalised treatment options for patients with cystinuria.
Item Type: | Article |
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DOI/Identification number: | 10.1186/s12864-017-3913-1 |
Uncontrolled keywords: | cystinuria, kidney disease, structural bioinformatics |
Subjects: | Q Science > Q Science (General) |
Divisions: | Divisions > Division of Natural Sciences > School of Biosciences |
Depositing User: | Mark Wass |
Date Deposited: | 31 May 2017 11:34 UTC |
Last Modified: | 21 Sep 2020 15:43 UTC |
Resource URI: | https://kar.kent.ac.uk/id/eprint/61898 (The current URI for this page, for reference purposes) |
Wass, Mark N.: | ![]() |
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