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Publications by B. J Blencowe
Exon Skipping Through the Creation of a Putative Exonic Splicing Silencer as a Consequence of the Cystic Fibrosis Mutation R553X
Journal of Medical Genetics
Genetics
Related publications
A Cystic Fibrosis Patient Homozygous for the Nonsense Mutation R553X.
Journal of Medical Genetics
Genetics
Binding of DAZAP1 and hnRNPA1/A2 to an Exonic Splicing Silencer in a Natural BRCA1 Exon 18 Mutant
Molecular and Cellular Biology
Cell Biology
Molecular Biology
An Intronic Splicing Silencer Causes Skipping of the IIIb Exon of Fibroblast Growth Factor Receptor 2 Through Involvement of Polypyrimidine Tract Binding Protein
Molecular and Cellular Biology
Cell Biology
Molecular Biology
A Synonymous Mutation in SPINK5 Exon 11 Causes Netherton Syndrome by Altering Exonic Splicing Regulatory Elements
Journal of Human Genetics
Genetics
Biochemical Identification of New Proteins Involved in Splicing Repression at theDrosophilaP-element Exonic Splicing Silencer
Genes and Development
Genetics
Developmental Biology
A Naturally Arising Mutation of a Potential Silencer of Exon Splicing in Human Immunodeficiency Virus Type 1 Induces Dominant Aberrant Splicing and Arrests Virus Production.
Journal of Virology
Insect Science
Immunology
Microbiology
Virology
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
A Novel Exon in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Activated by the Nonsense Mutation E92X in Airway Epithelial Cells of Patients With Cystic Fibrosis.
Journal of Clinical Investigation
Medicine
Identification of a Novel Exonic Mutation at -13 From 5' Splice Site Causing Exon Skipping in a Girl With Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency.
Journal of Clinical Investigation
Medicine
