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Publication
Doença de Machado-Joseph : análise da região 3'UTR do gene ATXN3
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Advisor(s)
Abstract(s)
O presente estudo permitiu obter dados que permitiram conhecer o tipo de variação existente na região 3'UTR do gene ATXN3 em amostras de doentes DMJ, visando contribuir para uma melhor compreensão das bases moleculares desta doença. Para além disso, os dados aqui gerados poderão servir de base para trabalhos futuros, nomeadamente os que visem analisar a variação genética em regiões reguladoras do gene ATXN3 e a sua relação com a variabilidade fenotípica da DMJ.
ABSTRACT: The present study has generated data which will improve our knowledge concerning the variation of the 3'UTR region of the ATXN3 gene in MJD patients, aiming to contribute to a better understanding of the molecular basis of this disease. Data herein generated, furthermore, can be the basis for future work, namely for those who will be targeted at analyzing the genetic variability in regulatory regions of the ATXN3 gene and its relation with the phenotypic variability of MJD.
ABSTRACT: The present study has generated data which will improve our knowledge concerning the variation of the 3'UTR region of the ATXN3 gene in MJD patients, aiming to contribute to a better understanding of the molecular basis of this disease. Data herein generated, furthermore, can be the basis for future work, namely for those who will be targeted at analyzing the genetic variability in regulatory regions of the ATXN3 gene and its relation with the phenotypic variability of MJD.
Description
Dissertação de Mestrado em Ciências Biomédicas.
Keywords
Doença de Machado-Joseph Doença Neurodegenerativa Genética Humana