p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation. [electronic resource]
Producer: 20171208Description: 31-38 p. digitalISSN:- 1873-135X
- Cells, Cultured
- Child, Preschool
- Fibroblasts -- drug effects
- Humans
- Lymphocytes -- drug effects
- Male
- Muscular Atrophy, Spinal -- genetics
- Mutation
- Nonsense Mediated mRNA Decay -- drug effects
- Protein Synthesis Inhibitors -- pharmacology
- Puromycin -- pharmacology
- RNA Helicases -- antagonists & inhibitors
- RNA, Messenger -- genetics
- RNA, Small Interfering -- genetics
- Survival of Motor Neuron 1 Protein -- genetics
- Trans-Activators -- antagonists & inhibitors
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.