Clinical and Genetic Analysis of Patients with Cystinuria in the United Kingdom

BACKGROUND AND OBJECTIVES: Cystinuria is a rare inherited renal stone disease. Mutations in the amino acid exchanger System b(0,+), the two subunits of which are encoded by SLC3A1 and SLC7A9, predominantly underlie this disease. The work analyzed the epidemiology of cystinuria and the influence of m...

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Detalhes bibliográficos
Publicado no:Clin J Am Soc Nephrol
Main Authors: Rhodes, Hannah L., Yarram-Smith, Laura, Rice, Sarah J., Tabaksert, Ayla, Edwards, Noel, Hartley, Alice, Woodward, Mark N., Smithson, Sarah L., Tomson, Charles, Welsh, Gavin I., Williams, Margaret, Thwaites, David T., Sayer, John A., Coward, Richard J.M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2015
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4491297/
https://ncbi.nlm.nih.gov/pubmed/25964309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.10981114
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