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Mutation detection

Splice Site Mutations in the ATP7A Gene

Tina Skjørringe, Zeynep Tümer, Lisbeth Birk Møller

Rapid KRAS, EGFR, BRAF and PIK3CA Mutation Analysis of Fine Needle Aspirates from Non-Small-Cell Lung Cancer Using Allele-Specific qPCR

Ronald van Eijk, Jappe Licht, [ ... ], Tom van Wezel

Multicolor Combinatorial Probe Coding for Real-Time PCR

Qiuying Huang, Linlin Zheng, [ ... ], Qingge Li

K70Q Adds High-Level Tenofovir Resistance to “Q151M Complex” HIV Reverse Transcriptase through the Enhanced Discrimination Mechanism

Atsuko Hachiya, Eiichi N. Kodama, [ ... ], Stefan G. Sarafianos

Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients

Carolina Minutolo, Alejandro D. Nadra, [ ... ], Liliana Dain

Detection of Resistance Mutations to Antivirals Oseltamivir and Zanamivir in Avian Influenza A Viruses Isolated from Wild Birds

Goran Orozovic, Kanita Orozovic, Johan Lennerstrand, Björn Olsen

Mutation Detection with Next-Generation Resequencing through a Mediator Genome

Omri Wurtzel, Mally Dori-Bachash, [ ... ], Rotem Sorek

Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes

Kozo Nagai, Ken Yamamoto, [ ... ], Masaki Yasukawa

The Effect of Gentamicin-Induced Readthrough on a Novel Premature Termination Codon of CD18 Leukocyte Adhesion Deficiency Patients

Amos J. Simon, Atar Lev, [ ... ], Raz Somech

FGFR3, HRAS, KRAS, NRAS and PIK3CA Mutations in Bladder Cancer and Their Potential as Biomarkers for Surveillance and Therapy

Lucie C. Kompier, Irene Lurkin, [ ... ], Ellen C. Zwarthoff

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

Amélie Bonnefond, Emmanuelle Durand, [ ... ], Philippe Froguel

Impact of the Mitochondrial Genetic Background in Complex III Deficiency

Mari Carmen Gil Borlado, David Moreno Lastres, [ ... ], Cristina Ugalde

Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-Generation Sequencing

Michael V. Zaragoza, Joseph Fass, [ ... ], Eloisa Arbustini

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