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Full metadata record
DC Field | Value | Language |
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dc.contributor.author | Cuschieri, Alfred | - |
dc.date.accessioned | 2014-09-16T12:54:17Z | - |
dc.date.available | 2014-09-16T12:54:17Z | - |
dc.date.issued | 1995 | - |
dc.identifier.citation | Cuschieri, A. (1995). New insight into genetic disease : the role of trinucleotide repeat expansions. Maltese Medical Journal, 7(2), 4-6. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar//handle/123456789/211 | - |
dc.description.abstract | The development of genetics in the last few decades is replete with surprise phenomena and new findings. One such phenomenon is the trinucleotide repeat expansion, a new type of mutation first discovered in 1991. These genetic diseases usually appear late in life and show the unusual phenomenon of anticipation in which the disease appears earlier and increases in severity in subsequent generations. In the present age of molecular genetics all physicians must be informed and educated about the implications of genetic diseases. Equally, there must be appropriate facilities for genetic testing and counselling and it is the responsibility of health authorities to ensure that such facilities are available and adequate. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | Maltese Medical Journal | en_GB |
dc.rights | info:eu-repo/semantics/openAccess | en_GB |
dc.subject | Genetic disorders | en_GB |
dc.subject | Human chromosome abnormalities | en_GB |
dc.title | New insight into genetic disease : the role of trinucleotide repeat expansions | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.description.reviewed | peer-reviewed | - |
Appears in Collections: | MMJ, Volume 7, Issue 2 MMJ, Volume 7, Issue 2 |
Files in This Item:
File | Description | Size | Format | |
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mmj070204.pdf | 5.21 MB | Adobe PDF | View/Open |
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