Full text in PMC (nucleotide) for Gene (Select 300317) - PMC

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Items: 3

Select item 44579571.

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Niccolo E. Mencacci, Ignacio Rubio-Agusti, Anselm Zdebik, Friedrich Asmus, Marthe H.R. Ludtmann, Mina Ryten, Vincent Plagnol, Ann-Kathrin Hauser, Sara Bandres-Ciga, Conceição Bettencourt, Paola Forabosco, Deborah Hughes, Marc M.P. Soutar, Kathryn Peall, Huw R. Morris, Daniah Trabzuni, Mehmet Tekman, Horia C. Stanescu, Robert Kleta, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Barbara Garavaglia, Ebba Lohmann, Anne Weissbach, Christine Klein, John Hardy, Alan M. Pittman, Thomas Foltynie, Andrey Y. Abramov, Thomas Gasser, Kailash P. Bhatia, Nicholas W. Wood

Am J Hum Genet. 2015 Jun 4; 96(6): 938–947. doi: 10.1016/j.ajhg.2015.04.008

PMCID:: PMC4457957

Abstract Article PDF–1.5M

Select item 42058462.

Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension

Kousuke Kasahara, Yoshitaka Kawakami, Tohru Kiyono, Shigenobu Yonemura, Yoshifumi Kawamura, Saho Era, Fumio Matsuzaki, Naoki Goshima, Masaki Inagaki

Nat Commun. 2014 Oct 1; 5: 5081. Published online 2014 Oct 1. doi: 10.1038/ncomms6081

PMCID:: PMC4205846

Abstract Article PDF–2.8M

Select item 5402773.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405