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

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-b(0,+)AT transpo...

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Detalles Bibliográficos
Autores principales: Olschok, Kathrin, Vester, Udo, Lahme, Sven, Kurth, Ingo, Eggermann, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196009/
https://www.ncbi.nlm.nih.gov/pubmed/30342472
http://dx.doi.org/10.1186/s12882-018-1080-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196009/
https://www.ncbi.nlm.nih.gov/pubmed/30342472
http://dx.doi.org/10.1186/s12882-018-1080-5

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