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Mutation detection

Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy

Cheng-Tsung Hsiao, Pei-Chien Tsai, [ ... ], Yi-Chung Lee

Validation of a Multiplex Allele-Specific Polymerase Chain Reaction Assay for Detection of KRAS Gene Mutations in Formalin-Fixed, Paraffin-Embedded Tissues from Colorectal Cancer Patients

Sirirat Seekhuntod, Paninee Thavarungkul, Nuntaree Chaichanawongsaroj

Mutations Related to Antiretroviral Resistance Identified by Ultra-Deep Sequencing in HIV-1 Infected Children under Structured Interruptions of HAART

Jose Manuel Vazquez-Guillen, Gerardo C. Palacios-Saucedo, [ ... ], Cristina Rodriguez-Padilla

FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients

Avani Solanki, Purvi Mohanty, [ ... ], Babu Rao Vundinti

Middle East Respiratory Syndrome Coronavirus Intra-Host Populations Are Characterized by Numerous High Frequency Variants

Monica K. Borucki, Victoria Lao, [ ... ], Jonathan E. Allen

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Nicole Weisschuh, Anja K. Mayer, [ ... ], Bernd Wissinger

A Follow-Up of the Multicenter Collaborative Study on HIV-1 Drug Resistance and Tropism Testing Using 454 Ultra Deep Pyrosequencing

Elizabeth P. St. John, Birgitte B. Simen, [ ... ], 454 HIV-1 Alpha Study Group

Benefits and Challenges with Applying Unique Molecular Identifiers in Next Generation Sequencing to Detect Low Frequency Mutations

Ruqin Kou, Ham Lam, [ ... ], Shihong Li

Simplified Paper Format for Detecting HIV Drug Resistance in Clinical Specimens by Oligonucleotide Ligation

Nuttada Panpradist, Ingrid A. Beck, [ ... ], Barry R. Lutz

Individualized Mutation Detection in Circulating Tumor DNA for Monitoring Colorectal Tumor Burden Using a Cancer-Associated Gene Sequencing Panel

Kei A. Sato, Tsuyoshi Hachiya, [ ... ], Satoshi S. Nishizuka

HIV-1 Drug Resistance Mutations: Potential Applications for Point-of-Care Genotypic Resistance Testing

Soo-Yon Rhee, Michael R. Jordan, [ ... ], Robert W. Shafer

Single-Tubed Wild-Type Blocking Quantitative PCR Detection Assay for the Sensitive Detection of Codon 12 and 13 KRAS Mutations

Jun-Fu Huang, Dong-Zhu Zeng, [ ... ], Qing Huang

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center

Isabella Giovannoni, Francesco Callea, [ ... ], Paola Francalanci

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