Publications by authors named "Ampaiwan Chuamsunrit"
Biochim Biophys Acta
July 2012
Article Synopsis
- The IVS6+1G>T mutation, found in patients with severe factor VII deficiency, disrupts normal splicing, leading to possible partial protein expression.
- Despite producing mainly non-functional transcripts, the mutation activates an alternative splice site, resulting in a rare but functional variant of factor VII that carries out limited coagulation activity.
- This suggests that even minimal levels of factor VII expression may prevent lethal outcomes in affected individuals, providing insights into the mutation's potential physiological implications.
