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Point mutation

In silico Identification of IgE-Binding Epitopes of Osmotin Protein

Prerna Sharma, Shailendra Nath Gaur, Naveen Arora

published 18 Jan 2013

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Naturally Occurring Mutations in Large Surface Genes Related to Occult Infection of Hepatitis B Virus Genotype C

Hong Kim, Seoung-Ae Lee, Dong-Won Kim, Sueng-Hyun Lee, Bum-Joon Kim

published 18 Jan 2013

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Identification of Discrete Sites in Yip1A Necessary for Regulation of Endoplasmic Reticulum Structure

Kaitlyn M. Dykstra, Idil Ulengin, Nicholas DelRose, Tina H. Lee

published 14 Jan 2013

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The Frequency of Granulocytes with Spontaneous Somatic Mutations: A Wide Distribution in a Normal Human Population

Tommaso Rondelli, Margherita Berardi, Benedetta Peruzzi, Luca Boni, Roberto Caporale, Piero Dolara, Rosario Notaro, Lucio Luzzatto

published 14 Jan 2013

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Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease

Raquel María Fernández, Yves Mathieu, Berta Luzón-Toro, Rocío Núñez-Torres, Antonio González-Meneses, Guillermo Antiñolo, Jeanne Amiel, Salud Borrego

published 14 Jan 2013

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Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

C. Alexander Valencia, Arunkanth Ankala, Devin Rhodenizer, Shruti Bhide, Martin Robert Littlejohn, Lisa Mari Keong, Anne Rutkowski, Susan Sparks, Carsten Bonnemann, Madhuri Hegde

published 11 Jan 2013

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Control of Hes7 Expression by Tbx6, the Wnt Pathway and the Chemical Gsk3 Inhibitor LiCl in the Mouse Segmentation Clock

Aitor González, Iris Manosalva, Tianxiao Liu, Ryoichiro Kageyama

published 09 Jan 2013

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A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1

Junyu Zhang, Hongbin Liu, Zhiyuan Liu, Yong Liao, Luo Guo, Honglian Wang, Lin He, Xiaodong Zhang, Qinghe Xing

published 08 Jan 2013

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The Role of Viral Population Diversity in Adaptation of Bovine Coronavirus to New Host Environments

Monica K. Borucki, Jonathan E. Allen, Haiyin Chen-Harris, Adam Zemla, Gilda Vanier, Shalini Mabery, Clinton Torres, Pamela Hullinger, Tom Slezak

published 07 Jan 2013

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Structure-Function Relation of Phospholamban: Modulation of Channel Activity as a Potential Regulator of SERCA Activity

Serena Smeazzetto, Andrea Saponaro, Howard S. Young, Maria Rosa Moncelli, Gerhard Thiel

published 04 Jan 2013

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Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Félix Claverie-Martín, Víctor García-Nieto, Cesar Loris, Gema Ariceta, Inmaculada Nadal, Laura Espinosa, Ángeles Fernández-Maseda, Montserrat Antón-Gamero, África Avila, Álvaro Madrid, Hilaria González-Acosta, Elizabeth Córdoba-Lanus, Fernando Santos, Marta Gil-Calvo, Mar Espino, Elena García-Martinez, Ana Sanchez, Rafael Muley, RenalTube Group

published 03 Jan 2013

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Epitope Dampening Monotypic Measles Virus Hemagglutinin Glycoprotein Results in Resistance to Cocktail of Monoclonal Antibodies

Patrycja J. Lech, Gregory J. Tobin, Ruth Bushnell, Emily Gutschenritter, Linh D. Pham, Rebecca Nace, Els Verhoeyen, François-Loïc Cosset, Claude P. Muller, Stephen J. Russell, Peter L. Nara

published 03 Jan 2013

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Investigation of Prolific Sheep from UK and Ireland for Evidence on Origin of the Mutations in BMP15 (FecXG, FecXB) and GDF9 (FecGH) in Belclare and Cambridge Sheep

Michael P. Mullen, James P. Hanrahan, Dawn J. Howard, Richard Powell

published 02 Jan 2013

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