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Substitution mutation

nfxB as a Novel Target for Analysis of Mutation Spectra in Pseudomonas aeruginosa

Mariela R. Monti, Natalia R. Morero, Virginia Miguel, Carlos E. Argaraña

published 07 Jun 2013

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Detection of Haplotypes Associated with Prenatal Death in Dairy Cattle and Identification of Deleterious Mutations in GART, SHBG and SLC37A2

Sébastien Fritz, Aurelien Capitan, Anis Djari, Sabrina C. Rodriguez, Anne Barbat, Aurélia Baur, Cécile Grohs, Bernard Weiss, Mekki Boussaha, Diane Esquerré, Christophe Klopp, Dominique Rocha, Didier Boichard

published 07 Jun 2013

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Effect of Single Amino Acid Substitution Observed in Cancer on Pim-1 Kinase Thermodynamic Stability and Structure

Clorinda Lori, Antonella Lantella, Alessandra Pasquo, Leila T. Alexander, Stefan Knapp, Roberta Chiaraluce, Valerio Consalvi

published 05 Jun 2013

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Identification of a Novel De Novo Mutation Associated with PRKAG2 Cardiac Syndrome and Early Onset of Heart Failure

Yang Liu, Rong Bai, Lin Wang, Cuntai Zhang, Ruifu Zhao, Deli Wan, Xinshan Chen, Gabriel Caceres, Daniel Barr, Hector Barajas-Martinez, Charles Antzelevitch, Dan Hu

published 31 May 2013

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Compound Heterozygous Mutations in SLC30A2/ZnT2 Results in Low Milk Zinc Concentrations: A Novel Mechanism for Zinc Deficiency in a Breast-Fed Infant

Naoya Itsumura, Yasuji Inamo, Fumiko Okazaki, Fumie Teranishi, Hiroshi Narita, Taiho Kambe, Hiroko Kodama

published 31 May 2013

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Rat Model for Dominant Dystrophic Epidermolysis Bullosa: Glycine Substitution Reduces Collagen VII Stability and Shows Gene-Dosage Effect

Alexander Nyström, Jens Buttgereit, Michael Bader, Tatiana Shmidt, Cemil Özcelik, Ingrid Hausser, Leena Bruckner-Tuderman, Johannes S. Kern

published 23 May 2013

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Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation

Takehiko Naito, Shin-ya Nishio, Yoh-ichiro Iwasa, Takuya Yano, Kozo Kumakawa, Satoko Abe, Kotaro Ishikawa, Hiromi Kojima, Atsushi Namba, Chie Oshikawa, Shin-ichi Usami

published 23 May 2013

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Identifying SARS-CoV Membrane Protein Amino Acid Residues Linked to Virus-Like Particle Assembly

Ying-Tzu Tseng, Chia-Hui Chang, Shiu-Mei Wang, Kuo-Jung Huang, Chin-Tien Wang

published 20 May 2013

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A Kir6.2 Pore Mutation Causes Inactivation of ATP-Sensitive Potassium Channels by Disrupting PIP₂-Dependent Gating

Jeremy D. Bushman, Qing Zhou, Show-Ling Shyng

published 20 May 2013

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Fitness Costs of Synonymous Mutations in the rpsT Gene Can Be Compensated by Restoring mRNA Base Pairing

Peter A. Lind, Dan I. Andersson

published 15 May 2013

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ARID1A Alterations Are Associated with FGFR3-Wild Type, Poor-Prognosis, Urothelial Bladder Tumors

Cristina Balbás-Martínez, María Rodríguez-Pinilla, Ariel Casanova, Orlando Domínguez, David G. Pisano, Gonzalo Gómez, Josep Lloreta, José A. Lorente, Núria Malats, Francisco X. Real

published 01 May 2013

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Variation in Heterozygosity Predicts Variation in Human Substitution Rates between Populations, Individuals and Genomic Regions

William Amos

published 30 Apr 2013

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Novel Phylogenetic Algorithm to Monitor Human Tropism in Egyptian H5N1-HPAIV Reveals Evolution toward Efficient Human-to-Human Transmission

Vladimir R. Perovic, Claude P. Muller, Henry L. Niman, Nevena Veljkovic, Ursula Dietrich, Dusan D. Tosic, Sanja Glisic, Veljko Veljkovic

published 26 Apr 2013

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