Publication
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
Birgit S Budde, Yasmin Namavar, Peter G Barth, Bwee Tien Poll-The, Gudrun Nürnberg, Christian Becker, Fred van Ruissen, Marian A J Weterman, Kees Fluiter, Erik T te Beek, Eleonora Aronica, Marjo S van der Knaap, Wolfgang Höhne, Mohammad Reza Toliat, Yanick J Crow, Maja Steinlin, Thomas Voit, Filip Roelens, Wim Brussel, Knut Brockmann, Marten Kyllerman, Eugen Boltshauser, Gerhard Hammersen, Michèl Willemsen, Lina Basel-Vanagaite, Ingeborg Krägeloh-Mann, Linda S de Vries, Laszlo Sztriha, Francesco Muntoni, Colin D Ferrie, Roberta Battini, Raoul C M Hennekam, Eugenio Grillo, Frits A Beemer, Loes M E Stoets, Bernd Wollnik, Peter Nürnberg, Frank Baas
Nature Genetics, August 2008, Springer Science + Business Media
DOI: 10.1038/ng.204