New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

Por Font-Llitjos, M, Jimenez-Vidal, M, Bisceglia, L, Di, P, de Sanctis, L, Rousaud, F, Zelante, L, Palacin, M, Nunes, V
Publicado em 2005

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

Por Calonge, M J, Volpini, V, Bisceglia, L, Rousaud, F, de Sanctis, L, Beccia, E, Zelante, L, Testar, X, Zorzano, A, Estivill, X
Publicado em 1995