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

Abstract Background Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications. Two genes (SLC7A9 and SLC3A1) that form an amino acid transporter are known to be responsible for the disease. Variants that cause the di...

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出版年:	BMC Genomics
主要な著者:	Henry J. Martell, Kathie A. Wong, Juan F. Martin, Ziyan Kassam, Kay Thomas, Mark N. Wass
フォーマット:	論文
言語:	英語
出版事項:	BMC 2017-08-01
主題:	Cystinuria Structural modelling Computational predictions Personalised medicine ExAC
オンライン･アクセス:	http://link.springer.com/article/10.1186/s12864-017-3913-1