No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria

No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria

Abstract Background Cystinuria is caused by the defective renal reabsorption of cystine and dibasic amino acids, and results in cystine stone formation. So far, mutations in two genes have been identified as causative. The SLC3A1/rBAT gene encodes the heavy subunit of the heterodimeric rBAT-b0,+AT t...

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Bibliographic Details
Main Authors: Kathrin Olschok, Udo Vester, Sven Lahme, Ingo Kurth, Thomas Eggermann
Format: Article
Language:English
Published: BMC 2018-10-01
Series:BMC Nephrology
Subjects:
Cystinuria
Mutation
AGT1/SLC7A13
Online Access:http://link.springer.com/article/10.1186/s12882-018-1080-5

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http://link.springer.com/article/10.1186/s12882-018-1080-5

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