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SLC7A9 mutations in all three cystinuria subtypes.
Leclerc D, Boutros M, Suh D, Wu Q, Palacin M, Ellis JR, Goodyer P, Rozen R. Leclerc D, et al. Kidney Int. 2002 Nov;62(5):1550-9. doi: 10.1046/j.1523-1755.2002.00602.x. Kidney Int. 2002. PMID: 12371955 Free article.
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
Font MA, Feliubadaló L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL Jr, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Fernández E, Zorzano A, Bertran J, Palacín M; International Cystinuria Consortium. Font MA, et al. Hum Mol Genet. 2001 Feb 15;10(4):305-16. doi: 10.1093/hmg/10.4.305. Hum Mol Genet. 2001. PMID: 11157794
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