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Publications by Ane Y. Steffensen
The Silent Mutation Nucleotide 744 G → A, Lys172Lys, in Exon 6 of BRCA2 Results in Exon Skipping
Breast Cancer Research and Treatment
Cancer Research
Oncology
Related publications
A T+6 to C+6 Mutation in the Donor Splice Site of COL3A1 IVS7 Causes Exon Skipping and Results in Ehlers-Danlos Syndrome Type IV.
Journal of Medical Genetics
Genetics
565. Feasibility and Effectiveness of Exon 51 Skipping in Human-Like MDX Mutation
Molecular Therapy
Molecular Medicine
Molecular Biology
Pharmacology
Medicine
Genetics
Drug Discovery
Ab Initio Prediction of Mutation-Induced Cryptic Splice-Site Activation and Exon Skipping
European Journal of Human Genetics
Genetics
Hidden Dangers: A Cryptic Exon Disrupts BRCA2 mRNA
Clinical Cancer Research
Cancer Research
Oncology
Splicing Analysis Disclosed a Determinant Single Nucleotide for Exon Skipping Caused by a Novel Intraexonic Four-Nucleotide Deletion in the Dystrophin Gene
Journal of Medical Genetics
Genetics
Exon Skipping: A First in Class Strategy for Duchenne Muscular Dystrophy
Expert Opinion on Biological Therapy
Drug Discovery
Clinical Biochemistry
Pharmacology
A Novel Type 2A Von Willebrand Factor Mutation Located at the Last Nucleotide of Exon 26 (3538G>A) Causes Skipping of 2 Nonadjacent Exons
Blood
Biochemistry
Immunology
Cell Biology
Hematology
Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients’ Cells
Journal of Neuromuscular Diseases
Neurology
Antisense-Induced Exon Skipping and Synthesis of Dystrophin in the MDX Mouse
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
