Concepedia

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Birgit Budde, Yasmin Namavar, P. G. Barth, Bwee Tien Poll‐The, Gudrun Nürnberg, Christian Becker, Fred van Ruissen, Marian A. J. Weterman, Kees Fluiter, Erik T te Beek,

Nature Genetics · 2008 · 256 citations · 16 references

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16

Parametric and nonparametric linkage analysis: a unified multipoint approach.

Leonid Kruglyak, Mark J. Daly, Mary Pat Reeve-Daly et al. · PubMed · 1996 · 2.9K citations · Full text

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Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

Marjo S. van der Knaap, Peter A. J. Leegwater, Andrea A.M. Könst et al. · Annals of Neurology · 2001 · 387 citations

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Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

Simon Edvardson, Avraham Shaag, Olga A. Kolesnikova et al. · The American Journal of Human Genetics · 2007 · 331 citations · Full text

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HaploPainter: a tool for drawing pedigrees with complex haplotypes

Holger Thiele, Peter Nürnberg · Computer applications in the biosciences · 2004 · 277 citations · Full text

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Identification of a Human Endonuclease Complex Reveals a Link between tRNA Splicing and Pre-mRNA 3′ End Formation

Sergey Paushkin, Meenal Patel, Bansri Furia et al. · Cell · 2004 · 246 citations · Full text

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