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Mutation detection

Identity by Descent Mapping of Founder Mutations in Cancer Using High-Resolution Tumor SNP Data

Eric Letouzé, Aliou Sow, [ ... ], Aurélien de Reyniès

Allele Specific Locked Nucleic Acid Quantitative PCR (ASLNAqPCR): An Accurate and Cost-Effective Assay to Diagnose and Quantify KRAS and BRAF Mutation

Luca Morandi, Dario de Biase, [ ... ], Giovanni Tallini

Amyloid-Beta (Aβ) D7H Mutation Increases Oligomeric Aβ42 and Alters Properties of Aβ-Zinc/Copper Assemblies

Wei-Ting Chen, Chen-Jee Hong, [ ... ], Irene H. Cheng

Genetic Background Analysis of Protein C Deficiency Demonstrates a Recurrent Mutation Associated with Venous Thrombosis in Chinese Population

Liang Tang, Tao Guo, [ ... ], Yu Hu

Analysis of Tp53 Codon 72 Polymorphisms, Tp53 Mutations, and HPV Infection in Cutaneous Squamous Cell Carcinomas

Keith R. Loeb, Maryam M. Asgari, [ ... ], Nancy B. Kiviat

Transmission and Selection of Macrolide Resistant Mycoplasma genitalium Infections Detected by Rapid High Resolution Melt Analysis

Jimmy Twin, Jorgen S. Jensen, [ ... ], Sepehr N. Tabrizi

Routine Multiplex Mutational Profiling of Melanomas Enables Enrollment in Genotype-Driven Therapeutic Trials

Christine M. Lovly, Kimberly Brown Dahlman, [ ... ], William Pao

Mitochondrial Diabetes in Children: Seek and You Will Find It

Cristina Mazzaccara, Dario Iafusco, [ ... ], Lucia Sacchetti

Dynamics of Hepatitis B Virus Quasispecies in Association with Nucleos(t)ide Analogue Treatment Determined by Ultra-Deep Sequencing

Norihiro Nishijima, Hiroyuki Marusawa, [ ... ], Tsutomu Chiba

B-RAF Mutant Alleles Associated with Langerhans Cell Histiocytosis, a Granulomatous Pediatric Disease

Takeshi Satoh, Alexander Smith, [ ... ], Frederic Geissmann

HIV-1 Phenotypic Reverse Transcriptase Inhibitor Drug Resistance Test Interpretation Is Not Dependent on the Subtype of the Virus Backbone

Michelle Bronze, Kim Steegen, [ ... ], on behalf of the ART-A Consortium

Identification and Functional Characterisation of Novel Glucokinase Mutations Causing Maturity-Onset Diabetes of the Young in Slovakia

Lucia Valentínová, Nicola L. Beer, [ ... ], Anna L. Gloyn

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

Fernanda dos Santos Pereira, Ursula Matte, [ ... ], Laura Bannach Jardim

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