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

Crow, YJ; Chase, DS; Lowenstein, Schmidt; 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; 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; Cordeiro, NJ; Crichiutti, G; Dabydeen, L; Dale, RC; D'Arrigo, S; De, Goede; De, Laet; De, Waele; Denzler, I; Desguerre, I; Devriendt, K; Di, Rocco; Fahey, MC; Fazzi, E; Ferrie, CD; Figueiredo, A; Gener, B; Goizet, C; Gowrinathan, NR; Gowrishankar, K; Hanrahan, D; Isidor, B; Kara, BÜLENT; Khan, N; King, MD; Kirk, EP; Kumar, R; Lagae, L; Landrieu, P; Lauffer, H; Laugel, V; La, Piana; Lim, MJ; Lin, JP; Linnankivi, T; Mackay, MT; Marom, DR; Marques, Lourenço; 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; Wee, Teik; Thomas, MM; Till, M; Tonduti, D; Valente, EM; Van, Coster; van, der; 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, GI

doi:10.1002/ajmg.a.36887

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

Atıf İçin Kopyala

Crow Y., Chase D., Lowenstein S., Szynkiewicz M., Forte G., Gornall H., ...Daha Fazla

American journal of medical genetics. Part A, ss.296-312, 2015 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası:
Basım Tarihi: 2015
Doi Numarası: 10.1002/ajmg.a.36887
Dergi Adı: American journal of medical genetics. Part A
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.296-312
Anahtar Kelimeler: Aicardi-Goutieres syndrome, bilateral striatal necrosis, spastic paraparesis, type I interferon, interferon signature, AICARDI-GOUTIERES-SYNDROME, SYSTEMIC-LUPUS-ERYTHEMATOSUS, DNA EXONUCLEASE TREX1, CLASSIFICATION-SYSTEM, INTERFERON-ALPHA, BASAL GANGLIA, GENE, ENCEPHALOPATHY, CALCIFICATIONS, VASCULOPATHY
Kocaeli Üniversitesi Adresli: Evet