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Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine

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). p. 550. ISSN 1471-2164. (doi:10.1186/s12864-017-3913-1) (KAR id:61898)

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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
DOI/Identification number: 10.1186/s12864-017-3913-1
Uncontrolled keywords: cystinuria, kidney disease, structural bioinformatics
Subjects: Q Science > Q Science (General)
Divisions: Faculties > Sciences > School of Biosciences
Depositing User: Mark Wass
Date Deposited: 31 May 2017 11:34 UTC
Last Modified: 29 May 2019 19:06 UTC
Resource URI: https://kar.kent.ac.uk/id/eprint/61898 (The current URI for this page, for reference purposes)
Wass, Mark N.: https://orcid.org/0000-0001-5428-6479
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