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Point mutation

Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

C. Alexander Valencia, Arunkanth Ankala, [ ... ], Madhuri Hegde

Control of Hes7 Expression by Tbx6, the Wnt Pathway and the Chemical Gsk3 Inhibitor LiCl in the Mouse Segmentation Clock

Aitor González, Iris Manosalva, Tianxiao Liu, Ryoichiro Kageyama

A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1

Junyu Zhang, Hongbin Liu, [ ... ], Qinghe Xing

The Role of Viral Population Diversity in Adaptation of Bovine Coronavirus to New Host Environments

Monica K. Borucki, Jonathan E. Allen, [ ... ], Tom Slezak

Structure-Function Relation of Phospholamban: Modulation of Channel Activity as a Potential Regulator of SERCA Activity

Serena Smeazzetto, Andrea Saponaro, [ ... ], Gerhard Thiel

Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Félix Claverie-Martín, Víctor García-Nieto, [ ... ], RenalTube Group

Epitope Dampening Monotypic Measles Virus Hemagglutinin Glycoprotein Results in Resistance to Cocktail of Monoclonal Antibodies

Patrycja J. Lech, Gregory J. Tobin, [ ... ], Peter L. Nara

Investigation of Prolific Sheep from UK and Ireland for Evidence on Origin of the Mutations in BMP15 (FecXG, FecXB) and GDF9 (FecGH) in Belclare and Cambridge Sheep

Michael P. Mullen, James P. Hanrahan, Dawn J. Howard, Richard Powell

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva, [ ... ], Ana María Oller de Ramírez

Specificity and Versatility of Substrate Binding Sites in Four Catalytic Domains of Human N-Terminal Acetyltransferases

Cédric Grauffel, Angèle Abboud, [ ... ], Nathalie Reuter

High-Throughput Mutation Profiling of Primary and Metastatic Endometrial Cancers Identifies KRAS, FGFR2 and PIK3CA to Be Frequently Mutated

Camilla Krakstad, Even Birkeland, [ ... ], Helga Salvesen

Cataracts and Microphthalmia Caused by a Gja8 Mutation in Extracellular Loop 2

Chun-hong Xia, Bo Chang, [ ... ], Xiaohua Gong

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Kerstin Knies, Beatrice Schuster, [ ... ], Detlev Schindler

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