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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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Foilsithe in: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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society of Nephrology 2015
Ábhair:
Rochtain Ar Líne: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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