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

Eric P. Hoffman, Corlee J. Bertelson, Anthony P. Monaco et al. · Cell · 1987 · 2.4K citations

Life Sciences, Genetics, Molecular Genetics +11

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

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

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

Qi Long Lu, Christopher J. Mann, Fang Lou et al. · Nature Medicine · 2003 · 391 citations

Life Sciences, Genetics, Molecular Biology +8

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

Kenta Nakai, Hiroshi Sakamoto · Gene · 1994 · 329 citations

Life Sciences, Genetics, Molecular Genetics +13

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

J.C.T. van Deutekom · Human Molecular Genetics · 2001 · 289 citations

Life Sciences, Genetics, Molecular Biology +17