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Point mutation

Recurrent Chromosomal Copy Number Alterations in Sporadic Chordomas

Long Phi Le, G. Petur Nielsen, [ ... ], A. John Iafrate

Benchmarking of Mutation Diagnostics in Clinical Lung Cancer Specimens

Silvia Querings, Janine Altmüller, [ ... ], Roman K. Thomas

Dynamic Diagnosis of Familial Prion Diseases Supports the β2-α2 Loop as a Universal Interference Target

Massimiliano Meli, Maria Gasset, Giorgio Colombo

Homologous Recombination Is Stimulated by a Decrease in dUTPase in Arabidopsis

Emeline Dubois, Dolores Córdoba-Cañero, [ ... ], Marie-Pascale Doutriaux

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

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

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

Dominant Cone-Rod Dystrophy: A Mouse Model Generated by Gene Targeting of the GCAP1/Guca1a Gene

Prateek K. Buch, Marija Mihelec, [ ... ], David M. Hunt

Point Mutations in Helicobacter pylori's fur Regulatory Gene that Alter Resistance to Metronidazole, a Prodrug Activated by Chemical Reduction

Sung Sook Choi, Peter T. Chivers, Douglas E. Berg

HIV Quasispecies Dynamics during Pro-Active Treatment Switching: Impact on Multi-Drug Resistance and Resistance Archiving in Latent Reservoirs

Max von Kleist, Stephan Menz, [ ... ], Wilhelm Huisinga

Structure-Function Study of Mammalian Munc18-1 and C. elegans UNC-18 Implicates Domain 3b in the Regulation of Exocytosis

Margaret E. Graham, Gerald R. Prescott, [ ... ], Jeff W. Barclay

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