スポンサーリンク
Department of Pediatrics, Graduate School of Medicine, Kobe University | 論文
- A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5
- Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
- Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene : a novel source of genomic instability
- A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis
- Maple Syrup Urine Disease : from the Clinics to the Lab and back to the Clinics
- Poor correlation between hemolysis and jaundice in glucose 6-phosphate dehydrogenase-deficient babies
- Mutational Spectrum of MSUD in the Philippines
- Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle
- A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy
- Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA