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Nonsense mutation

The Effect of Gentamicin-Induced Readthrough on a Novel Premature Termination Codon of CD18 Leukocyte Adhesion Deficiency Patients

Amos J. Simon, Atar Lev, Baruch Wolach, Ronit Gavrieli, Ninette Amariglio, Ester Rosenthal, Ephraim Gazit, Eran Eyal, Gideon Rechavi, Raz Somech

published 16 Nov 2010

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Familial Glucocorticoid Receptor Haploinsufficiency by Non-Sense Mediated mRNA Decay, Adrenal Hyperplasia and Apparent Mineralocorticoid Excess

Jérôme Bouligand, Brigitte Delemer, Annie-Claude Hecart, Geri Meduri, Say Viengchareun, Larbi Amazit, Séverine Trabado, Bruno Fève, Anne Guiochon-Mantel, Jacques Young, Marc Lombès

published 22 Oct 2010

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An ADAMTSL2 Founder Mutation Causes Musladin-Lueke Syndrome, a Heritable Disorder of Beagle Dogs, Featuring Stiff Skin and Joint Contractures

Hannah L. Bader, Alison L. Ruhe, Lauren W. Wang, Aaron K. Wong, Kari F. Walsh, Rebecca A. Packer, Jonathan Mitelman, Kathryn R. Robertson, Dennis P. O'Brien, Karl W. Broman, G. Diane Shelton, Suneel S. Apte, Mark W. Neff

published 17 Sep 2010

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Frequent MAGE Mutations in Human Melanoma

Otavia L. Caballero, Qi Zhao, Donata Rimoldi, Brian J. Stevenson, Suzanne Svobodová, Sylvie Devalle, Ute F. Röhrig, Anna Pagotto, Olivier Michielin, Daniel Speiser, Jedd D. Wolchok, Cailian Liu, Tanja Pejovic, Kunle Odunsi, Francis Brasseur, Benoit J. Van den Eynde, Lloyd J. Old, Xin Lu, Jonathan Cebon, Robert L. Strausberg, Andrew J. Simpson

published 16 Sep 2010

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A Molecular Analysis of Mutations at the Complex dumpy Locus in Drosophila melanogaster

Amber Carmon, Michael J. Guertin, Olga Grushko, Brad Marshall, Ross MacIntyre

published 23 Aug 2010

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SEDLIN Forms Homodimers: Characterisation of SEDLIN Mutations and Their Interactions with Transcription Factors MBP1, PITX1 and SF1

Jeshmi Jeyabalan, M. Andrew Nesbit, Juris Galvanovskis, Richard Callaghan, Patrik Rorsman, Rajesh V. Thakker

published 14 May 2010

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Transcription-Associated Mutagenesis Increases Protein Sequence Diversity More Effectively than Does Random Mutagenesis in Escherichia coli

Hyunchul Kim, Baek-Seok Lee, Masaru Tomita, Akio Kanai

published 10 May 2010

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Genetic Variability in CLU and Its Association with Alzheimer's Disease

Rita J. Guerreiro, John Beck, J. Raphael Gibbs, Isabel Santana, Martin N. Rossor, Jonathan M. Schott, Michael A. Nalls, Helena Ribeiro, Beatriz Santiago, Nick C. Fox, Catarina Oliveira, John Collinge, Simon Mead, Andrew Singleton, John Hardy

published 03 Mar 2010

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The X-Ray Crystal Structure of Escherichia coli Succinic Semialdehyde Dehydrogenase; Structural Insights into NADP⁺/Enzyme Interactions

Christopher G. Langendorf, Trevor L. G. Key, Gustavo Fenalti, Wan-Ting Kan, Ashley M. Buckle, Tom Caradoc-Davies, Kellie L. Tuck, Ruby H. P. Law, James C. Whisstock

published 18 Feb 2010

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Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy

Peter J. Taylor, Grant A. Betts, Sarah Maroulis, Christian Gilissen, Robyn L. Pedersen, David R. Mowat, Heather M. Johnston, Michael F. Buckley

published 20 Jan 2010

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Loss of Smyhc1 or Hsp90α1 Function Results in Different Effects on Myofibril Organization in Skeletal Muscles of Zebrafish Embryos

Marta Codina, Junling Li, Joaquim Gutiérrez, Joseph P. Y. Kao, Shao Jun Du

published 01 Jan 2010

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Loss-of-Function Mutations in Rab Escort Protein 1 (REP-1) Affect Intracellular Transport in Fibroblasts and Monocytes of Choroideremia Patients

Natalia V. Strunnikova, Jennifer Barb, Yuri V. Sergeev, Ashwin Thiagarajasubramanian, Christopher Silvin, Peter J. Munson, Ian M. MacDonald

published 22 Dec 2009

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Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

Matthew Feldhammer, Stéphanie Durand, Alexey V. Pshezhetsky

published 13 Oct 2009

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