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  1. Pubblicazioni

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Articolo
Data di Pubblicazione:
2015
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
Aicardi-Goutières syndrome; Bilateral striatal necrosis; Interferon signature; Spastic paraparesis; Type I interferon; Adenosine Deaminase; Autoimmune Diseases of the Nervous System; DEAD-box RNA Helicases; Exodeoxyribonucleases; Genetic Association Studies; Genotype; Humans; Interferons; Monomeric GTP-Binding Proteins; Nervous System Malformations; Phosphoproteins; Pterins; Ribonuclease H; Mutation; Phenotype; Genetics (clinical); Genetics
Elenco autori:
Crow, Yj; Chase, Ds; Lowenstein Schmidt, J; Szynkiewicz, M; Forte, Gm; Gornall, Hl; Oojageer, A; Anderson, B; Pizzino, A; Helman, G; Abdel Hamid, Ms; Abdel Salam, Gm; Ackroyd, S; Aeby, A; Agosta, G; Albin, C; Allon Shalev, S; Arellano, M; Ariaudo, G; Aswani, V; Babul Hirji, R; Baildam, Em; Bahi Buisson, N; Bailey, Km; Barnerias, C; Barth, M; Battini, R; Beresford, Mw; Bernard, G; Bianchi, M; Billette de Villemeur, T; Blair, Em; Bloom, M; Burlina, Ab; Carpanelli, Ml; Carvalho, Dr; Castro Gago, M; Cavallini, A; Cereda, C; Chandler, Ke; Chitayat, Da; Collins, Ae; Sierra Corcoles, C; Cordeiro, Nj; Crichiutti, G; Dabydeen, L; Dale, Rc; D'Arrigo, S; De Goede, Cg; De Laet, C; De Waele, Lm; Denzler, I; Desguerre, I; Devriendt, K; Di Rocco, M; Fahey, Mc; Fazzi, Elisa Maria; Ferrie, Cd; Figueiredo, A; Gener, B; Goizet, C; Gowrinathan, Nr; Gowrishankar, K; Hanrahan, D; Isidor, B; Kara, B; Khan, N; King, Md; Kirk, Ep; Kumar, R; Lagae, L; Landrieu, P; Lauffer, H; Laugel, V; La Piana, R; Lim, Mj; Lin, Jp; Linnankivi, T; Mackay, Mt; Marom, Dr; Marques Lourenço, C; Mckee, Sa; Moroni, I; Morton, Je; Moutard, Ml; Murray, K; Nabbout, R; Nampoothiri, S; Nunez Enamorado, N; Oades, Pj; Olivieri, I; Ostergaard, Jr; Pérez Dueñas, B; Prendiville, Js; Ramesh, V; Rasmussen, M; Régal, L; Ricci, F; Rio, M; Rodriguez, D; Roubertie, A; Salvatici, E; Segers, Ka; Sinha, Gp; Soler, D; Spiegel, R; Stödberg, Ti; Straussberg, R; Swoboda, Kj; Suri, M; Tacke, U; Tan, Ty; te Water Naude, J; Wee Teik, K; Thomas, Mm; Till, M; Tonduti, D; Valente, Em; Van Coster, Rn; van der Knaap, Ms; Vassallo, G; Vijzelaar, R; Vogt, J; Wallace, Gb; Wassmer, E; Webb, Hj; Whitehouse, Wp; Whitney, Rn; Zaki, Ms; Zuberi, Sm; Livingston, Jh; Rozenberg, F; Lebon, P; Vanderver, A; Orcesi, S; Rice, G. i.
Link alla scheda completa:
https://iris.unibs.it/handle/11379/482646
Pubblicato in:
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Journal
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