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Point mutation

Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype

Stephen C. Collins, Brad Coffee, Paul J. Benke, Elizabeth Berry-Kravis, Fred Gilbert, Ben Oostra, Dicky Halley, Michael E. Zwick, David J. Cutler, Stephen T. Warren

published 05 Mar 2010

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A Mutational Analysis of the Endophilin-A N-BAR Domain Performed in Living Flies

Anita G. Jung, Christina Labarerra, Anna M. Jansen, Klaus Qvortrup, Klemens Wild, Ole Kjaerulff

published 03 Mar 2010

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A Structural Domain Mediates Attachment of Ethanolamine Phosphoglycerol to Eukaryotic Elongation Factor 1A in Trypanosoma brucei

Eva Greganova, Manfred Heller, Peter Bütikofer

published 02 Mar 2010

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A Tyrosine Residue on the TSH Receptor Stabilizes Multimer Formation

Rauf Latif, Krzysztof Michalek, Syed Ahmed Morshed, Terry F. Davies

published 26 Feb 2010

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Evidence of Genetic Instability in Tumors and Normal Nearby Tissues

Giuseppe Geraci, Ida D'Elia, Rosanna del Gaudio, Rossella Di Giaimo

published 23 Feb 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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Unexpected Tolerance of α-Cleavage of the Prion Protein to Sequence Variations

José B. Oliveira-Martins, Sei-ichi Yusa, Anna Maria Calella, Claire Bridel, Frank Baumann, Paolo Dametto, Adriano Aguzzi

published 08 Feb 2010

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Characterization of Notch1 Antibodies That Inhibit Signaling of Both Normal and Mutated Notch1 Receptors

Miguel Aste-Amézaga, Ningyan Zhang, Janet E. Lineberger, Beth A. Arnold, Timothy J. Toner, Mingcheng Gu, Lingyi Huang, Salvatore Vitelli, Kim T. Vo, Peter Haytko, Jing Zhang Zhao, Frederic Baleydier, Sarah L'Heureux, Hongfang Wang, Wendy R. Gordon, Elizabeth Thoryk, Marie Blanke Andrawes, Kittichoat Tiyanont, Kimberly Stegmaier, Giovanni Roti, Kenneth N. Ross, Laura L. Franlin, Hui Wang, Fubao Wang, Michael Chastain, Andrew J. Bett, Laurent P. Audoly, Jon C. Aster, Stephen C. Blacklow, Hans E. Huber

published 08 Feb 2010

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CBL Is Frequently Altered in Lung Cancers: Its Relationship to Mutations in MET and EGFR Tyrosine Kinases

Yi-Hung Carol Tan, Soundararajan Krishnaswamy, Suvobroto Nandi, Rajani Kanteti, Sapana Vora, Kenan Onel, Rifat Hasina, Fang-Yi Lo, Essam El-Hashani, Gustavo Cervantes, Matthew Robinson, Stephen C. Kales, Stanley Lipkowitz, Theodore Karrison, Martin Sattler, Everett E. Vokes, Yi-Ching Wang, Ravi Salgia

published 29 Jan 2010

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Two Multiplex Assays That Simultaneously Identify 22 Possible Mutation Sites in the KRAS, BRAF, NRAS and PIK3CA Genes

Irene Lurkin, Robert Stoehr, Carolyn D. Hurst, Angela A. G. van Tilborg, Margaret A. Knowles, Arndt Hartmann, Ellen C. Zwarthoff

published 21 Jan 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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A Role for Non-Covalent SUMO Interaction Motifs in Pc2/CBX4 E3 Activity

Jacqueline C. Merrill, Tiffany A. Melhuish, Michael H. Kagey, Shen-Hsi Yang, Andrew D. Sharrocks, David Wotton

published 20 Jan 2010

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Switch Region for Pathogenic Structural Change in Conformational Disease and Its Prediction

Xin Liu, Ya-Pu Zhao

published 11 Jan 2010

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