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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| Format: | Final Year Project (FYP) |
| Language: | English |
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2016
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| Online Access: | http://hdl.handle.net/10356/67360 |