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Page 1
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M. Campuzano V, et al. Among authors: canizares j. Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423. Science. 1996. PMID: 8596916
Frataxin fracas.
Cossée M, Campuzano V, Koutnikova H, Fischbeck K, Mandel JL, Koenig M, Bidichandani SI, Patel PI, Moltè MD, Cañizares J, De Frutos R, Pianese L, Cavalcanti F, Monticelli A, Cocozza S, Montermini L, Pandolfo M. Cossée M, et al. Among authors: canizares j. Nat Genet. 1997 Apr;15(4):337-8. doi: 10.1038/ng0497-337. Nat Genet. 1997. PMID: 9090376 No abstract available.
Incipient GAA repeats in the primate Friedreich ataxia homologous genes.
González-Cabo P, Sánchez MI, Cañizares J, Blanca JM, Martínez-Arias R, De Castro M, Bertranpetit J, Palau F, Moltó MD, de Frutos R. González-Cabo P, et al. Among authors: canizares j. Mol Biol Evol. 1999 Jun;16(6):880-3. doi: 10.1093/oxfordjournals.molbev.a026173. Mol Biol Evol. 1999. PMID: 10368965 No abstract available.
74 results