Sage Journals: Discover world-class research

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Research article

First published 1998-08

Usage of Cryptic Splice Sites in Citrullinemia Fibroblasts Suggests Role of Polyadenylation in Splice-Site Selection during Terminal Exon Definition

Ting-Fen Tsai, Mei-Jane WU, Tsung-Sheng SU

DNA and Cell Biology

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Research article

First published 2024-10

Gene Editing of the Endogenous Cryptic 3′ Splice Site Corrects the RNA Splicing Defect in the β 654 -Thalassemia Mouse Model

Dan Lu, Xiuli Gong, Xinbing Guo [...]

Human Gene Therapy

Open access

Review article

First published 2020

Pseudoexons of the DMD Gene

Niall P. Keegan

Journal of Neuromuscular Diseases

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Research article

First published 2009-04

Functional Analysis of the Synonymous R385R Mutation in the Low-Density Lipoprotein Receptor Gene

Kristian Tveten, Kah-Lin Khoo, Knut Erik Berge [...]

Genetic Testing and Molecular Biomarkers

Free access

Case report

First published 2007-11

In vitro expression of β -thalassaemia gene (IVS1-1G>C) reveals complete inactivation of the normal 5' splice site and alternative aberrant RNA splicing

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2014-7

Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease

Petra Laššuthová, Markéta Žaliová, Ken Inoue [...]

Journal of Child Neurology

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Review article

First published 2014-02

Antisense Mediated Splicing Modulation For Inherited Metabolic Diseases: Challenges for Delivery

Belen Pérez, Lluisa Vilageliu, Daniel Grinberg [...]

Nucleic Acid Therapeutics

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Research article

First published 2012-01

A G-to-T Transversion at the Splice Acceptor Site of Dystrophin Exon 14 Shows Multiple Splicing Outcomes That Are Not Exemplified by Transition Mutations

Mitsunori Ota, Yasuhiro Takeshima, Atsushi Nishida [...]

Genetic Testing and Molecular Biomarkers

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Case report

First published 2012-1

Analysis of the Alternative Splicing of an FGFR2 Transcript Due to a Novel 5′ Splice Site Mutation (1084+1G>A): Case Report

Ilana Traynis, Jonathan A. Bernstein, Phyllis Gardner [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2011-04

Identification of the COL2A1 Mutation in Patients with Type I Stickler Syndrome Using RNA from Freshly Isolated Peripheral White Blood Cells

Hiromoto Yaguchi, Takayuki Ikeda, Hiromi Osada [...]

Genetic Testing and Molecular Biomarkers

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