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An Animal Model of Type A Cystinuria Due to Spontaneous Mutation in 129S2/SvPasCrl Mice

Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding for rBAT (type A cystinuria) or SLC7A9 gene encoding for b(0,+)AT (type B cystinuria). Here, we evidenced in a commonly used congenic 129S2/SvPasCrl mouse substrain a dramatically high frequency of kid...

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Detalles Bibliográficos
Autores principales: Livrozet, Marine, Vandermeersch, Sophie, Mesnard, Laurent, Thioulouse, Elizabeth, Jaubert, Jean, Boffa, Jean-Jacques, Haymann, Jean-Philippe, Baud, Laurent, Bazin, Dominique, Daudon, Michel, Letavernier, Emmanuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105406/
https://www.ncbi.nlm.nih.gov/pubmed/25048459
http://dx.doi.org/10.1371/journal.pone.0102700