スポンサーリンク
Department Of Genetic Epidemiology Kobe University Graduate School Of Medicine | 論文
- HnRNP C1/C2 May Regulate Exon 7 Splicing in the Spinal Muscular Atrophy Gene SMN1
- Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography-tandem mass spectrometry
- Clinical features of infants with subependymal germinolysis and choroid plexus cysts
- Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography–tandem mass spectrometry
- Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder
- Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy
- Amplification of selected exons by polymerase chain reaction enables determination of the translational reading frame of dystrophin mRNA resulting from deletion mutations.
- Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines