PMC Links for Nucleotide (Select 1519312973) - PMC

Select item 35166001.

A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree

Wang-yang Xu, Ming-min Gu, Lian-hua Sun, Wen-ting Guo, Hou-bao Zhu, Jian-fang Ma, Wen-tao Yuan, Ying Kuang, Bao-jun Ji, Xiao-lin Wu, Yan Chen, Hong-xin Zhang, Fu-ting Sun, Wei Huang, Lei Huang, Sheng-di Chen, Zhu-gang Wang

Am J Hum Genet. 2012 Dec 7; 91(6): 1088–1094. doi: 10.1016/j.ajhg.2012.09.018

PMCID:: PMC3516600

Abstract Article PDF–1.1M

Select item 35165992.

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

Katharina Danhauser, Sven W. Sauer, Tobias B. Haack, Thomas Wieland, Christian Staufner, Elisabeth Graf, Johannes Zschocke, Tim M. Strom, Thorsten Traub, Jürgen G. Okun, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Stefan Kölker

Am J Hum Genet. 2012 Dec 7; 91(6): 1082–1087. doi: 10.1016/j.ajhg.2012.10.006

PMCID:: PMC3516599

Abstract Article PDF–495K

Select item 29434763.

Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression

Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862

PMCID:: PMC2943476

Abstract Article PDF–461K

Select item 13802254.

A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease

Andrew Grupe, Yonghong Li, Charles Rowland, Petra Nowotny, Anthony L. Hinrichs, Scott Smemo, John S. K. Kauwe, Taylor J. Maxwell, Sara Cherny, Lisa Doil, Kristina Tacey, Ryan van Luchene, Amanda Myers, Fabienne Wavrant-De Vrièze, Mona Kaleem, Paul Hollingworth, Luke Jehu, Catherine Foy, Nicola Archer, Gillian Hamilton, Peter Holmans, Chris M. Morris, Joseph Catanese, John Sninsky, Thomas J. White, John Powell, John Hardy, Michael O’Donovan, Simon Lovestone, Lesley Jones, John C. Morris, Leon Thal, Michael Owen, Julie Williams, Alison Goate

Am J Hum Genet. 2006 Jan; 78(1): 78–88. Published online 2005 Nov 15. doi: 10.1086/498851

PMCID:: PMC1380225

Abstract Article PDF–329K

Select item 32268395.

Global Comparative Gene Expression Analysis of Melanoma Patient Samples, Derived Cell Lines and Corresponding Tumor Xenografts

YAGUANG XI, ADAM RIKER, LALITA SHEVDE-SAMANT, RAJEEV SAMANT, CHRISTOPHER MORRIS, ELAINE GAVIN, OYSTEIN FODSTAD, JINGFANG JU

Cancer Genomics Proteomics. Author manuscript; available in PMC 2011 Nov 30.

Published in final edited form as: Cancer Genomics Proteomics. 2008 Jan-Feb; 5(1): 1–35.

PMCID:: PMC3226839

Abstract Article PDF–2.0M

Select item 4309486.

Leveraging the Mouse Genome for Gene Prediction in Human: From Whole-Genome Shotgun Reads to a Global Synteny Map

Paul Flicek, Evan Keibler, Ping Hu, Ian Korf, Michael R. Brent

Genome Res. 2003 Jan 1; 13(1): 46–54. doi: 10.1101/gr.830003

PMCID:: PMC430948

Abstract Article PDF–502K

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