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

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 disease di...

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Detalles Bibliográficos
Autores principales: Martell, Henry J., Wong, Kathie A., Martin, Juan F., Kassam, Ziyan, Thomas, Kay, Wass, Mark N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558187/
https://www.ncbi.nlm.nih.gov/pubmed/28812535
http://dx.doi.org/10.1186/s12864-017-3913-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558187/
https://www.ncbi.nlm.nih.gov/pubmed/28812535
http://dx.doi.org/10.1186/s12864-017-3913-1

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