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Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome
Triggs-Raine, B,
Cattini, PA,
Wrogemann, K,
Meyer, B,
Greenberg, CR,
Khatkar, S,
Entian, KD,
Armistead, J,
Mark, BL,
Lamont, RE,
Coghlan, G,
Zelinski, T,
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Koetter, P,
Wiechert, J,
Patel, N
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2009 |
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The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase
Kötter, P,
Held, M,
Wurm, JP,
Bahr, U,
Wöhnert, J,
Engels, JW,
Meyer, B,
Heckel, A,
Entian, KD,
Frolow, O,
Karas, M
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Nucleic Acids Res. |
2010 |