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

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...

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