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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative ...
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nurnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, T Te Beek E, Aronica E, van der Knaap MS, Hohne W, Toliat MR, Crow YJ, Steinlin M, Voit T, Roelens F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krageloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nurnberg P, Baas F,
http://dx.doi.org/10.1038/ng.204
Nat Genet. 2008 Aug 17.
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