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

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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書目詳細資料
主要作者:	Muhammad Ridhwan Mohammad Muzaki
其他作者:	Xavier Roca Castella
格式:	Final Year Project
語言:	English
出版:	2016
主題:	DRNTU::Science
在線閱讀:	http://hdl.handle.net/10356/67360
標簽:	添加標簽沒有標簽, 成為第一個標記此記錄!
機構:	Nanyang Technological University
語言:	English

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