Full text in PMC (nucleotide) for Gene (Select 295229) - PMC

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Items: 4

Select item 50656531.

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Laura S. Kremer, Katharina Danhauser, Diran Herebian, Danijela Petkovic Ramadža, Dorota Piekutowska-Abramczuk, Annette Seibt, Wolfgang Müller-Felber, Tobias B. Haack, Rafał Płoski, Klaus Lohmeier, Dominik Schneider, Dirk Klee, Dariusz Rokicki, Ertan Mayatepek, Tim M. Strom, Thomas Meitinger, Thomas Klopstock, Ewa Pronicka, Johannes A. Mayr, Ivo Baric, Felix Distelmaier, Holger Prokisch

Am J Hum Genet. 2016 Oct 6; 99(4): 894–902. Published online 2016 Sep 8. doi: 10.1016/j.ajhg.2016.07.018

PMCID:: PMC5065653

Abstract Article PDF–1.5M

Select item 23292722.

Biochemical and Structural Characterization of Apolipoprotein A-I Binding Protein, a Novel Phosphoprotein with a Potential Role in Sperm Capacitation

Kula N. Jha, Igor A. Shumilin, Laura C. Digilio, Olga Chertihin, Heping Zheng, Gerd Schmitz, Pablo E. Visconti, Charles J. Flickinger, Wladek Minor, John C. Herr

Endocrinology. 2008 May; 149(5): 2108–2120. Published online 2008 Jan 17. doi: 10.1210/en.2007-0582

PMCID:: PMC2329272

Abstract Article

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