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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Εκδόθηκε σε:	Proc Natl Acad Sci U S A
Κύριοι συγγραφείς:	Calonge, M J, Volpini, V, Bisceglia, L, Rousaud, F, de Sanctis, L, Beccia, E, Zelante, L, Testar, X, Zorzano, A, Estivill, X
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	National Academy of Sciences 1995
Θέματα:	Research Article
Διαθέσιμο Online:	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
Ετικέτες:	Προσθήκη ετικέτας Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!