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Mutation detection

JAK2 Exon 14 Deletion in Patients with Chronic Myeloproliferative Neoplasms

Wanlong Ma, Hagop Kantarjian, [ ... ], Maher Albitar

Evidence for Sub-Haplogroup H5 of Mitochondrial DNA as a Risk Factor for Late Onset Alzheimer's Disease

Aurelia Santoro, Valentina Balbi, [ ... ], Claudio Franceschi

Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice

Juan Rodriguez-Paris, Lynn Pique, [ ... ], Iris Schrijver

Molecular Ecology of Pyrethroid Knockdown Resistance in Culex pipiens pallens Mosquitoes

Lin Chen, Daibin Zhong, [ ... ], Guiyun Yan

Whole-Genome Sequencing Reveals Distinct Mutational Patterns in Closely Related Laboratory and Naturally Propagated Francisella tularensis Strains

Andreas Sjödin, Kerstin Svensson, [ ... ], Pär Larsson

Dynamics of HIV-1 Quasispecies during Antiviral Treatment Dissected Using Ultra-Deep Pyrosequencing

Charlotte Hedskog, Mattias Mild, [ ... ], Jan Albert

UBIAD1 Mutation Alters a Mitochondrial Prenyltransferase to Cause Schnyder Corneal Dystrophy

Michael L. Nickerson, Brittany N. Kostiha, [ ... ], Jayne S. Weiss

HIV Drug Resistance Surveillance Using Pooled Pyrosequencing

Hezhao Ji, Nathalie Massé, [ ... ], James Brooks

Interlaboratory Development and Validation of a HRM Method Applied to the Detection of JAK2 Exon 12 Mutations in Polycythemia Vera Patients

Valerie Ugo, Sylvie Tondeur, [ ... ], for the French Intergroup of Myeloproliferative disorders (FIM)

Two Multiplex Assays That Simultaneously Identify 22 Possible Mutation Sites in the KRAS, BRAF, NRAS and PIK3CA Genes

Irene Lurkin, Robert Stoehr, [ ... ], Ellen C. Zwarthoff

Mitochondrial Mutations in Adenoid Cystic Carcinoma of the Salivary Glands

Suhail K. Mithani, Chunbo Shao, [ ... ], Patrick K. Ha

Angiotensin I-Converting Enzyme Mutation (Trp1197Stop) Causes a Dramatic Increase in Blood ACE

Andrew B. Nesterovitch, Kyle D. Hogarth, [ ... ], Sergei M. Danilov

A Novel TRPC6 Mutation That Causes Childhood FSGS

Saskia F. Heeringa, Clemens C. Möller, [ ... ], Friedhelm Hildebrandt

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