Molecular diagnosis of an unconventional 5'splice site mutation causing congenital liver fibrosis

• Main Author: Muhammad Ridhwan Mohammad Muzaki
• Other Authors: Xavier Roca Castella
• Format: Final Year Project
• Language: English
• Published: 2016
• Subjects: DRNTU::Science
• Online Access: http://hdl.handle.net/10356/67360
• Institution: Nanyang Technological University

Normally, disease-causing 5′ splice-site (5′ss) mutations disrupt Watson-Crick/wobble base pair(s) with U1 small nuclear RNA (snRNA) but some mutations do not. In this thesis, we investigated a T→C mutation in hemochromatosis (HFE) intron 2 which might break a possible non-canonical Ψ-U base pair in...