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Calonge MJ, Gasparini P, Chillarón J, Chillón M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F, Barceló P, Estivill X, Zorzano A, Nunes V, Palacín M. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nature Genetics. 1994 Apr;6(4):420–5. doi: 10.1038/ng0494-420. |