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Substitution mutation

Mutational Analysis of the Terminal Protein Tpg of Streptomyces Chromosomes: Identification of the Deoxynucleotidylation Site

Chien-Chin Yang, We-Chi Sun, Wan-Yu Wang, Chi-Hung Huang, Fang-Shy Lu, Shu-Min Tseng, Carton W. Chen

published 14 Feb 2013

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Designing Antibiotic Cycling Strategies by Determining and Understanding Local Adaptive Landscapes

Christiane P. Goulart, Mentar Mahmudi, Kristina A. Crona, Stephen D. Jacobs, Marcelo Kallmann, Barry G. Hall, Devin C. Greene, Miriam Barlow

published 13 Feb 2013

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A Gly98Val Mutation in the N-Myc Downstream Regulated Gene 1 (NDRG1) in Alaskan Malamutes with Polyneuropathy

Camilla S. Bruun, Karin H. Jäderlund, Mette Berendt, Kristine B. Jensen, Eva H. Spodsberg, Hanne Gredal, G. Diane Shelton, James R. Mickelson, Katie M. Minor, Hannes Lohi, Inge Bjerkås, Øyvind Stigen, Arild Espenes, Cecilia Rohdin, Rebecca Edlund, Jennie Ohlsson, Sigitas Cizinauskas, Páll S. Leifsson, Cord Drögemüller, Lars Moe, Susanna Cirera, Merete Fredholm

published 05 Feb 2013

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The Roles of Helix I and Strand 5A in the Folding, Function and Misfolding of α₁-Antitrypsin

Anja S. Knaupp, Shani Keleher, Li Yang, Weiwen Dai, Stephen P. Bottomley, Mary C. Pearce

published 29 Jan 2013

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Constitutively Active CCR5 Chemokine Receptors Differ in Mediating HIV Envelope-dependent Fusion

Alex de Voux, Mei-Chi Chan, Asongna T. Folefoc, Michael T. Madziva, Colleen A. Flanagan

published 23 Jan 2013

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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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HeurAA: Accurate and Fast Detection of Genetic Variations with a Novel Heuristic Amplicon Aligner Program for Next Generation Sequencing

Lőrinc S. Pongor, Ferenc Pintér, István Peták

published 18 Jan 2013

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Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and Molecular Characterization of a Novel Mutation

Frédéric Brioude, Jérôme Bouligand, Bruno Francou, Jérôme Fagart, Ronan Roussel, Say Viengchareun, Laurent Combettes, Sylvie Brailly-Tabard, Marc Lombès, Jacques Young, Anne Guiochon-Mantel

published 18 Jan 2013

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Structural Insight into DFMO Resistant Ornithine Decarboxylase from Entamoeba histolytica: An Inkling to Adaptive Evolution

Preeti, Satya Tapas, Pravindra Kumar, Rentala Madhubala, Shailly Tomar

published 11 Jan 2013

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A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Asma Ben Ammar, Payam Soltanzadeh, Stéphanie Bauché, Pascale Richard, Evelyne Goillot, Ruth Herbst, Karen Gaudon, Caroline Huzé, Laurent Schaeffer, Yuji Yamanashi, Osamu Higuchi, Antoine Taly, Jeanine Koenig, Jean-Paul Leroy, Fayçal Hentati, Hossein Najmabadi, Kimia Kahrizi, Manouchehr Ilkhani, Michel Fardeau, Bruno Eymard, Daniel Hantaï

published 09 Jan 2013

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De Novo Sequencing of Astyanax mexicanus Surface Fish and Pachón Cavefish Transcriptomes Reveals Enrichment of Mutations in Cavefish Putative Eye Genes

Hélène Hinaux, Julie Poulain, Corinne Da Silva, Céline Noirot, William R. Jeffery, Didier Casane, Sylvie Rétaux

published 09 Jan 2013

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X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva, Mariela Roxana Monti, Carlos Enrique Argaraña, Masashi Morita, Stephan Kemp, Raquel Dodelson de Kremer, Lenka Dvoráková, Ana María Oller de Ramírez

published 31 Dec 2012

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