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232 results

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Page 1
Genomic structure and organization of the human rBAT gene (SLC3A1).
Purroy J, Bisceglia L, Calonge MJ, Zelante L, Testar X, Zorzano A, Estivill X, Palacín M, Nunes V, Gasparini P. Purroy J, et al. Among authors: bisceglia l. Genomics. 1996 Oct 15;37(2):249-52. doi: 10.1006/geno.1996.0552. Genomics. 1996. PMID: 8921402
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; International Cystinuria Consortium. Feliubadaló L, et al. Among authors: bisceglia l. Nat Genet. 1999 Sep;23(1):52-7. doi: 10.1038/12652. Nat Genet. 1999. PMID: 10471498
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. Among authors: bisceglia l. Hum Mol Genet. 2001 Feb 15;10(4):305-16. doi: 10.1093/hmg/10.4.305. Hum Mol Genet. 2001. PMID: 11157794
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M. Nunes V, et al. Among authors: bisceglia l. Hum Genet. 2005 Feb;116(3):231. Hum Genet. 2005. PMID: 15818799 No abstract available.
Gene symbol: SLC3A1. Disease: cystinuria.
Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V. Nunes V, et al. Among authors: bisceglia l. Hum Genet. 2005 Feb;116(3):231. Hum Genet. 2005. PMID: 15818800 No abstract available.
Gene symbol: SLC3A1. Disease: cystinuria.
Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M. Nunes V, et al. Among authors: bisceglia l. Hum Genet. 2005 Feb;116(3):232. Hum Genet. 2005. PMID: 15818802 No abstract available.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M. Nunes V, et al. Among authors: bisceglia l. Hum Genet. 2005 Feb;116(3):232. Hum Genet. 2005. PMID: 15818803 No abstract available.
Gene symbol: SLC3A1. Disease: cystinuria.
Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M. Nunes V, et al. Among authors: bisceglia l. Hum Genet. 2005 Feb;116(3):233. Hum Genet. 2005. PMID: 15818806 No abstract available.
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M. Nunes V, et al. Among authors: bisceglia l. Hum Genet. 2005 Feb;116(3):234. Hum Genet. 2005. PMID: 15818807 No abstract available.
232 results