Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection.

Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in t...

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Bibliographic Details
Main Authors: Crow, Y, Leitch, A, Hayward, B, Garner, A, Parmar, R, Griffith, E, Ali, M, Semple, C, Aicardi, J, Babul-Hirji, R, Baumann, C, Baxter, P, Bertini, E, Chandler, K, Chitayat, D, Cau, D, Déry, C, Fazzi, E, Goizet, C, King, MD, Klepper, J, Lacombe, D, Lanzi, G, Lyall, H, Martínez-Frías, M
Format: Journal article
Language:English
Published: 2006