A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1987 • 2,353 citations

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse

2003 • 385 citations

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1994 • 293 citations

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

2001 • 282 citations

Advances in Duchenne muscular dystrophy gene therapy

2003 • 208 citations

Comparative analysis detects dependencies among the 5′ splice-site positions

2004 • 196 citations

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.

1991 • 165 citations

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.

1997 • 151 citations

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe.

1991 • 147 citations

Induction of Exon Skipping of the Dystrophin Transcript in Lymphoblastoid Cells by Transfecting an Antisense Oligodeoxynucleotide Complementary to an Exon Recognition Sequence

1996 • 128 citations

Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing

1999 • 128 citations

Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.

1995 • 105 citations

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

2000 • 86 citations

Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient

2001 • 73 citations

A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy.

1994 • 42 citations

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

2004 • 39 citations

Chimeric RNA and 2′-O, 4′-C-Ethylene-Bridged Nucleic Acids Have Stronger Activity Than Phosphorothioate Oligodeoxynucleotides in Induction of Exon 19 Skipping in Dystrophin mRNA

2004 • 34 citations

Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

1998 • 28 citations

Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy

2003 • 23 citations

Activation of a cryptic 5′ splice site by U1 snRNA

2001 • 19 citations

Heterogous Dystrophin mRNA Produced by a Novel Splice Acceptor Site Mutation in Intermediate Dystrophinopathy

2003 • 18 citations

Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle

2001 • 11 citations