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Mutation

Evolutionary Analyses of Entire Genomes Do Not Support the Association of mtDNA Mutations with Ras/MAPK Pathway Syndromes

Alberto Gómez-Carballa, María Cerezo, [ ... ], Antonio Salas

A Small RNA Controls Expression of the Chitinase ChiA in Listeria monocytogenes

Jesper S. Nielsen, Marianne Halberg Larsen, [ ... ], Birgitte H. Kallipolitis

Epistatic Roles for Pseudomonas aeruginosa MutS and DinB (DNA Pol IV) in Coping with Reactive Oxygen Species-Induced DNA Damage

Laurie H. Sanders, Babho Devadoss, [ ... ], Mark D. Sutton

Analysis of Jak2 Catalytic Function by Peptide Microarrays: The Role of the JH2 Domain and V617F Mutation

Arturo Sanz, Daniela Ungureanu, [ ... ], Olli Silvennoinen

A Systematic Study of Gene Mutations in Urothelial Carcinoma; Inactivating Mutations in TSC2 and PIK3R1

Gottfrid Sjödahl, Martin Lauss, [ ... ], David Lindgren

IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

Stéphanie Boisson-Dupuis, Jamila El Baghdadi, [ ... ], Jean-Laurent Casanova

Separase Phosphosite Mutation Leads to Genome Instability and Primordial Germ Cell Depletion during Oogenesis

Juan Xu, Meizhi Wang, [ ... ], Xingxu Huang

Splice Site Mutations in the ATP7A Gene

Tina Skjørringe, Zeynep Tümer, Lisbeth Birk Møller

Disease-Related Changes in the Cerebrospinal Fluid Metabolome in Amyotrophic Lateral Sclerosis Detected by GC/TOFMS

Anna Wuolikainen, Thomas Moritz, [ ... ], Peter Munch Andersen

Trafficking Defect and Proteasomal Degradation Contribute to the Phenotype of a Novel KCNH2 Long QT Syndrome Mutation

Anton Mihic, Vijay S. Chauhan, [ ... ], Robert G. Tsushima

Evasion of IFN-γ Signaling by Francisella novicida Is Dependent upon Francisella Outer Membrane Protein C

Kalyan C. Nallaparaju, Jieh-Juen Yu, [ ... ], Bernard P. Arulanandam

Genome-Wide Association Study Identifies Genetic Loci Associated with Iron Deficiency

Christine E. McLaren, Chad P. Garner, [ ... ], Gordon D. McLaren

Predicting Phenotypic Severity of Uncertain Gene Variants in the RET Proto-Oncogene

David K. Crockett, Stephen R. Piccolo, [ ... ], Joyce A. Mitchell

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