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Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

Cystinuria is an autosomal recessive amino-aciduria where three urinary phenotypes have been described (I, II, and III). An amino acid transporter gene, SLC3A1 (formerly rBAT), was found to be responsible for this disorder. To assess whether mutations in SLC3A1 are involved in different cystinuria p...

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Publicado no:Proc Natl Acad Sci U S A
Principais autores: Calonge, M J, Volpini, V, Bisceglia, L, Rousaud, F, de Sanctis, L, Beccia, E, Zelante, L, Testar, X, Zorzano, A, Estivill, X
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC40863/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7568194/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.92.21.9667
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