Trinucleotide repeat disorders: An interesting interface between psychiatry and medicine
نویسندگان
چکیده
منابع مشابه
Non-coding trinucleotide repeat disorders
| The underlying genetic mutations for many inherited neurodegenerative disorders have been identified in recent years. One frequent type of mutation is trinucleotide repeat expansion. Depending on the location of the repeat expansion, the mutation might result in a loss of function of the disease gene, a toxic gain of function or both. Disease gene identification has led to the development of ...
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Dynamic mutations involve expansion of the number of repeat units consisting of three or more nucleotides in tandem (i.e. adjacent to one another) present in a gene or in its neighborhood. These repeats may occur in different genes and may code for different aminoacids. According to expansions sizes, it is possible to have unaffected individuals that are carriers of a pre-mutation. Instability ...
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ژورنال
عنوان ژورنال: BJPsych Advances
سال: 2017
ISSN: 2056-4678,2056-4686
DOI: 10.1192/apt.bp.117.017467