Articles with "associating mutations" as a keyword



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

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Published in 2017 at "BMC Genomics"

DOI: 10.1186/s12864-017-3913-1

Abstract: BackgroundCystinuria 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… read more here.

Keywords: medicine; associating mutations; mutations causing; disease ... See more keywords