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Digenic Inheritance in Cystinuria Mouse Model

Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b(0,+), responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to nephrolithiasis, due to the precipitation o...

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Publicado en:PLoS One
Autores principales: Espino, Meritxell, Font-Llitjós, Mariona, Vilches, Clara, Salido, Eduardo, Prat, Esther, López de Heredia, Miguel, Palacín, Manuel, Nunes, Virginia
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4567282/
https://ncbi.nlm.nih.gov/pubmed/26359869
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0137277
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