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Point mutation

Effect of Ku80 Deficiency on Mutation Frequencies and Spectra at a LacZ Reporter Locus in Mouse Tissues and Cells

Rita A. Busuttil, Denise P. Muñoz, Ana Maria Garcia, Francis Rodier, Woo Ho Kim, Yousin Suh, Paul Hasty, Judith Campisi, Jan Vijg

published 20 Oct 2008

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Analysis of Nigerians with Apparently Sporadic Parkinson Disease for Mutations in LRRK2, PRKN and ATXN3

Njideka Okubadejo, Angela Britton, Cynthia Crews, Rufus Akinyemi, John Hardy, Andrew Singleton, Jose Bras

published 17 Oct 2008

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Mutants of GABA Transaminase (POP2) Suppress the Severe Phenotype of succinic semialdehyde dehydrogenase (ssadh) Mutants in Arabidopsis

Frank Ludewig, Anke Hüser, Hillel Fromm, Linda Beauclair, Nicolas Bouché

published 10 Oct 2008

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Genome Wide Identification of Recessive Cancer Genes by Combinatorial Mutation Analysis

Stefano Volinia, Nicoletta Mascellani, Jlenia Marchesini, Angelo Veronese, Elizabeth Ormondroyd, Hansjuerg Alder, Jeff Palatini, Massimo Negrini, Carlo M. Croce

published 10 Oct 2008

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CHEK2 Mutations Affecting Kinase Activity Together With Mutations in TP53 Indicate a Functional Pathway Associated with Resistance to Epirubicin in Primary Breast Cancer

Ranjan Chrisanthar, Stian Knappskog, Erik Løkkevik, Gun Anker, Bjørn Østenstad, Steinar Lundgren, Elisabet O. Berge, Terje Risberg, Ingvil Mjaaland, Lovise Mæhle, Lars Fredrik Engebretsen, Johan Richard Lillehaug, Per Eystein Lønning

published 26 Aug 2008

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A Cytoplasmic Domain Mutation in ClC-Kb Affects Long-Distance Communication Across the Membrane

Gilbert Q. Martinez, Merritt Maduke

published 23 Jul 2008

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Genome-Wide Compensatory Changes Accompany Drug- Selected Mutations in the Plasmodium falciparum crt Gene

Hongying Jiang, Jigar J. Patel, Ming Yi, Jianbing Mu, Jinhui Ding, Robert Stephens, Roland A. Cooper, Michael T. Ferdig, Xin-zhuan Su

published 25 Jun 2008

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Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A)

Shufeng Li, Jiahuang Li, Jian Cheng, Bingrong Zhou, Xin Tong, Xiangbai Dong, Zixing Wang, Qingang Hu, Meng Chen, Zi-Chun Hua

published 11 Jun 2008

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The Polycomb Protein and E3 Ubiquitin Ligase Ring1B Harbors an IRES in its Highly Conserved 5′ UTR

Erwin Boutsma, Sonja Noback, Maarten van Lohuizen

published 04 Jun 2008

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Stylus: A System for Evolutionary Experimentation Based on a Protein/Proteome Model with Non-Arbitrary Functional Constraints

Douglas D. Axe, Brendan W. Dixon, Philip Lu

published 04 Jun 2008

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Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP

Sigrun Roeber, Eva-Maria Grasbon-Frodl, Otto Windl, Bjarne Krebs, Wei Xiang, Caren Vollmert, Thomas Illig, Andreas Schröter, Thomas Arzberger, Petra Weber, Inga Zerr, Hans A. Kretzschmar

published 14 May 2008

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Glucokinase Gene Mutations: Structural and Genotype-Phenotype Analyses in MODY Children from South Italy

Nadia Tinto, Adriana Zagari, Marina Capuano, Alfonso De Simone, Valentina Capobianco, Gerardo Daniele, Michela Giugliano, Raffaella Spadaro, Adriana Franzese, Lucia Sacchetti

published 02 Apr 2008

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The Human TPR Protein TTC4 Is a Putative Hsp90 Co-Chaperone Which Interacts with CDC6 and Shows Alterations in Transformed Cells

Gilles Crevel, Dorothy Bennett, Sue Cotterill

published 05 Mar 2008

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