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Point mutation

A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design

Francesco Saccà, Giorgia Puorro, Antonella Antenora, Angela Marsili, Alessandra Denaro, Raffaele Piro, Pierpaolo Sorrentino, Chiara Pane, Alessandra Tessa, Vincenzo Brescia Morra, Sergio Cocozza, Giuseppe De Michele, Filippo M. Santorelli, Alessandro Filla

published 11 Mar 2011

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Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

Stefan White, Thomas Ohnesorg, Amanda Notini, Kelly Roeszler, Jacqueline Hewitt, Hinda Daggag, Craig Smith, Erin Turbitt, Sonja Gustin, Jocelyn van den Bergen, Denise Miles, Patrick Western, Valerie Arboleda, Valerie Schumacher, Lavinia Gordon, Katrina Bell, Henrik Bengtsson, Terry Speed, John Hutson, Garry Warne, Vincent Harley, Peter Koopman, Eric Vilain, Andrew Sinclair

published 07 Mar 2011

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Genetic Analysis of the Functions and Interactions of Components of the LevQRST Signal Transduction Complex of Streptococcus mutans

Lin Zeng, Satarupa Das, Robert A. Burne

published 22 Feb 2011

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Functional Characterization of Human Cancer-Derived TRKB Mutations

Thomas R. Geiger, Ji-Ying Song, Aranzazu Rosado, Daniel S. Peeper

published 17 Feb 2011

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Efficient Nuclear Transport of Structurally Disturbed Cargo: Mutations in a Cargo Protein Switch Its Cognate Karyopherin

Susana R. Chaves, Jonathan S. Rosenblum

published 09 Feb 2011

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Dissection of Splicing Regulation at an Endogenous Locus by Zinc-Finger Nuclease-Mediated Gene Editing

Sandra Cristea, Philip D. Gregory, Fyodor D. Urnov, Gregory J. Cost

published 08 Feb 2011

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2-Hydroxyglutarate Production, but Not Dominant Negative Function, Is Conferred by Glioma-Derived NADP⁺-Dependent Isocitrate Dehydrogenase Mutations

Genglin Jin, Zachary J. Reitman, Ivan Spasojevic, Ines Batinic-Haberle, Jian Yang, Oleg Schmidt-Kittler, Darell D. Bigner, Hai Yan

published 04 Feb 2011

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Structural Analysis of Alkaline β-Mannanase from Alkaliphilic Bacillus sp. N16-5: Implications for Adaptation to Alkaline Conditions

Yueju Zhao, Yunhua Zhang, Yang Cao, Jianxun Qi, Liangwei Mao, Yanfen Xue, Feng Gao, Hao Peng, Xiaowei Wang, George F. Gao, Yanhe Ma

published 28 Jan 2011

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Bifunctional Avidin with Covalently Modifiable Ligand Binding Site

Jenni Leppiniemi, Juha A. E. Määttä, Henrik Hammaren, Mikko Soikkeli, Mikko Laitaoja, Janne Jänis, Markku S. Kulomaa, Vesa P. Hytönen

published 27 Jan 2011

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Mammalian Frataxin: An Essential Function for Cellular Viability through an Interaction with a Preformed ISCU/NFS1/ISD11 Iron-Sulfur Assembly Complex

Stéphane Schmucker, Alain Martelli, Florent Colin, Adeline Page, Marie Wattenhofer-Donzé, Laurence Reutenauer, Hélène Puccio

published 26 Jan 2011

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Crystal Structure of the Pyrazinamidase of Mycobacterium tuberculosis: Insights into Natural and Acquired Resistance to Pyrazinamide

Stéphanie Petrella, Nathalie Gelus-Ziental, Arnaud Maudry, Caroline Laurans, Rachid Boudjelloul, Wladimir Sougakoff

published 24 Jan 2011

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Point Mutations in Aβ Result in the Formation of Distinct Polymorphic Aggregates in the Presence of Lipid Bilayers

Phillip M. Pifer, Elizabeth A. Yates, Justin Legleiter

published 18 Jan 2011

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DIA1R Is an X-Linked Gene Related to Deleted In Autism-1

Azhari Aziz, Sean P. Harrop, Naomi E. Bishop

published 17 Jan 2011

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