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Point mutation

Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis

Masaya Tsuboi, Manabu Watanabe, [ ... ], Hiroyuki Nakayama

Active Hydrogen Bond Network (AHBN) and Applications for Improvement of Thermal Stability and pH-Sensitivity of Pullulanase from Bacillus naganoensis

Qing-Yan Wang, Neng-Zhong Xie, [ ... ], Ri-Bo Huang

Whole Exome Sequencing of Growing and Non-Growing Cutaneous Neurofibromas from a Single Patient with Neurofibromatosis Type 1

Daniel L. Faden, Saurabh Asthana, [ ... ], Michel Kliot

Sensitization of TRPA1 by Protein Kinase A

Jannis E. Meents, Michael J. M. Fischer, Peter A. McNaughton

Insertional Mutagenesis by CRISPR/Cas9 Ribonucleoprotein Gene Editing in Cells Targeted for Point Mutation Repair Directed by Short Single-Stranded DNA Oligonucleotides

Natalia Rivera-Torres, Kelly Banas, [ ... ], Eric B. Kmiec

A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis

Wufang Fan, Bei Wang, [ ... ], Lin Li

Tumor-Derived Suppressor of Fused Mutations Reveal Hedgehog Pathway Interactions

Nicole M. Urman, Amar Mirza, [ ... ], Anthony E. Oro

An Analysis of EGFR Mutations among 1506 Cases of Non-Small Cell Lung Cancer Patients in Guangxi, China

Wen-E Wei, Nai-Quan Mao, [ ... ], Li-Tu Zhang

Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis

Theodor Todorov, Prahlad Balakrishnan, [ ... ], Hartmut H. J. Schmidt

Tertiary Epimutations – A Novel Aspect of Epigenetic Transgenerational Inheritance Promoting Genome Instability

John R. McCarrey, Jake D. Lehle, [ ... ], Michael K. Skinner

Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis

Cong Tian, Belinda S. Harris, Kenneth R. Johnson

An Efficient Microarray-Based Genotyping Platform for the Identification of Drug-Resistance Mutations in Majority and Minority Subpopulations of HIV-1 Quasispecies

Verónica Martín, Celia Perales, [ ... ], Carlos Briones

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss

Agnieszka Pollak, Urszula Lechowicz, [ ... ], Rafał Płoski

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