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Mutation

Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle's Disease Carrying the p.R771PfsX33 PYGM Mutation

Gisela Nogales-Gadea, Emma Mormeneo, Inés García-Consuegra, Juan C. Rubio, Anna Orozco, Joaquin Arenas, Miguel A. Martín, Alejandro Lucia, Anna M. Gómez-Foix, Ramon Martí, Antoni L. Andreu

published 05 Oct 2010

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A Network of Cancer Genes with Co-Occurring and Anti-Co-Occurring Mutations

Qinghua Cui

published 04 Oct 2010

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Inferring PDZ Domain Multi-Mutant Binding Preferences from Single-Mutant Data

Elena Zaslavsky, Philip Bradley, Chen Yanover

published 30 Sep 2010

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Age-Correlated Gene Expression in Normal and Neurodegenerative Human Brain Tissues

Kajia Cao, Alice S. Chen-Plotkin, Joshua B. Plotkin, Li-San Wang

published 29 Sep 2010

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Characterisation of the SUMO-Like Domains of Schizosaccharomyces pombe Rad60

Lara K. Boyd, Brenda Mercer, Darren Thompson, Ewan Main, Felicity Z. Watts

published 27 Sep 2010

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Catalytic Function of PLA2G6 Is Impaired by Mutations Associated with Infantile Neuroaxonal Dystrophy but Not Dystonia-Parkinsonism

Laura A. Engel, Zheng Jing, Daniel E. O'Brien, Mengyang Sun, Paul T. Kotzbauer

published 23 Sep 2010

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NPM1 Deletion Is Associated with Gross Chromosomal Rearrangements in Leukemia

Roberta La Starza, Caterina Matteucci, Paolo Gorello, Lucia Brandimarte, Valentina Pierini, Barbara Crescenzi, Valeria Nofrini, Roberto Rosati, Enrico Gottardi, Giuseppe Saglio, Antonella Santucci, Laura Berchicci, Francesco Arcioni, Brunangelo Falini, Massimo Fabrizio Martelli, Constantina Sambani, Anna Aventin, Cristina Mecucci

published 21 Sep 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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New Views on Strand Asymmetry in Insect Mitochondrial Genomes

Shu-Jun Wei, Min Shi, Xue-Xin Chen, Michael J. Sharkey, Cornelis van Achterberg, Gong-Yin Ye, Jun-Hua He

published 15 Sep 2010

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Nephrocystin-1 Forms a Complex with Polycystin-1 via a Polyproline Motif/SH3 Domain Interaction and Regulates the Apoptotic Response in Mammals

Claas Wodarczyk, Gianfranco Distefano, Isaline Rowe, Massimiliano Gaetani, Barbara Bricoli, Mordi Muorah, Andrea Spitaleri, Valeria Mannella, Piero Ricchiuto, Monika Pema, Maddalena Castelli, Ariel E. Casanova, Luca Mollica, Manuela Banzi, Manila Boca, Corinne Antignac, Sophie Saunier, Giovanna Musco, Alessandra Boletta

published 14 Sep 2010

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Mucoidy, Quorum Sensing, Mismatch Repair and Antibiotic Resistance in Pseudomonas aeruginosa from Cystic Fibrosis Chronic Airways Infections

Sofía Feliziani, Adela M. Luján, Alejandro J. Moyano, Claudia Sola, José L. Bocco, Patricia Montanaro, Liliana Fernández Canigia, Carlos E. Argaraña, Andrea M. Smania

published 10 Sep 2010

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Mutational Profiling of Kinases in Human Tumours of Pancreatic Origin Identifies Candidate Cancer Genes in Ductal and Ampulla of Vater Carcinomas

Vincenzo Corbo, Rossana Ritelli, Stefano Barbi, Niccola Funel, Daniela Campani, Alberto Bardelli, Aldo Scarpa

published 08 Sep 2010

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