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Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes
Includes bibliographical references (leaves 92-112).
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| Main Author: | |
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
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Department of Molecular and Cell Biology
2014
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| _version_ | 1867614041327796224 |
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| access_status_str | Open Access |
| author | Lupindo, Bukiwe |
| author2 | Seoighe, Cathal |
| author_browse | Lupindo, Bukiwe Seoighe, Cathal |
| author_facet | Seoighe, Cathal Lupindo, Bukiwe |
| author_sort | Lupindo, Bukiwe |
| collection | Thesis |
| description | Includes bibliographical references (leaves 92-112). |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/4289 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:45:44.174Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2014 |
| publishDateRange | 2014 |
| publishDateSort | 2014 |
| publisher | Department of Molecular and Cell Biology |
| publisherStr | Department of Molecular and Cell Biology |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/4289 Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes Lupindo, Bukiwe Seoighe, Cathal Bioinformatics Includes bibliographical references (leaves 92-112). In humans and other higher eukaryotes the observation of multiple splice isoforms for a given gene is common. However it is not clear whether all of these alternatively spliced isoforms are a product of true alternative splicing or some are due to DNA sequence variations in human populations. Genetic variations that affect splicing have been shown to cause variation in splicing patterns and potentially are an important source of phenotypic variability among humans. Furthermore, variation in disease susceptibility and manifestation between individuals is often associated with genetic polymorphisms that determine the way in which genes are spliced. Hence, identification of genetic polymorphisms that might affect the way in which pre-mRNAs are spliced is an area of great interest. 2014-07-30T17:38:54Z 2014-07-30T17:38:54Z 2008 Master Thesis Masters MSc http://hdl.handle.net/11427/4289 eng application/pdf Department of Molecular and Cell Biology Faculty of Science University of Cape Town |
| spellingShingle | Bioinformatics Lupindo, Bukiwe Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes |
| thesis_degree_str | Master's |
| title | Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes |
| title_full | Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes |
| title_fullStr | Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes |
| title_full_unstemmed | Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes |
| title_short | Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes |
| title_sort | prevalence and frequency spectra of single nucleotide polymorphisms at exon intron junctions of human genes |
| topic | Bioinformatics |
| url | http://hdl.handle.net/11427/4289 |
| work_keys_str_mv | AT lupindobukiwe prevalenceandfrequencyspectraofsinglenucleotidepolymorphismsatexonintronjunctionsofhumangenes |