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Mutation detection

High Throughput Genetic Analysis of Congenital Myasthenic Syndromes Using Resequencing Microarrays

Lisa Denning, Jennifer A. Anderson, Ryan Davis, Jeffrey P. Gregg, Jennifer Kuzdenyi, Ricardo A. Maselli

published 19 Sep 2007

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Connector Inversion Probe Technology: A Powerful One-Primer Multiplex DNA Amplification System for Numerous Scientific Applications

Michael S. Akhras, Magnus Unemo, Sreedevi Thiyagarajan, Pål Nyrén, Ronald W. Davis, Andrew Z. Fire, Nader Pourmand

published 19 Sep 2007

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Gain-of-Function R225W Mutation in Human AMPKγ₃ Causing Increased Glycogen and Decreased Triglyceride in Skeletal Muscle

Sheila R. Costford, Nihan Kavaslar, Nadav Ahituv, Shehla N. Chaudhry, Wendy S. Schackwitz, Robert Dent, Len A. Pennacchio, Ruth McPherson, Mary-Ellen Harper

published 19 Sep 2007

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Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Andrew Orr, Marie-Pierre Dubé, Julien Marcadier, Haiyan Jiang, Antonio Federico, Stanley George, Christopher Seamone, David Andrews, Paul Dubord, Simon Holland, Sylvie Provost, Vanessa Mongrain, Susan Evans, Brent Higgins, Sharen Bowman, Duane Guernsey, Mark Samuels

published 01 Aug 2007

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Simple PCR Assays Improve the Sensitivity of HIV-1 Subtype B Drug Resistance Testing and Allow Linking of Resistance Mutations

Jeffrey A. Johnson, Jin-Fen Li, Xierong Wei, Jonathan Lipscomb, Diane Bennett, Ashley Brant, Mian-er Cong, Thomas Spira, Robert W. Shafer, Walid Heneine

published 25 Jul 2007

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B-RAF and N-RAS Mutations Are Preserved during Short Time In Vitro Propagation and Differentially Impact Prognosis

Selma Ugurel, Ranjit K. Thirumaran, Sandra Bloethner, Andreas Gast, Antje Sucker, Jan Mueller-Berghaus, Werner Rittgen, Kari Hemminki, Jürgen C. Becker, Rajiv Kumar, Dirk Schadendorf

published 21 Feb 2007

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