نتایج جستجو برای: gaa trinucleotide repeat

تعداد نتایج: 75075  

Journal: :PLoS Computational Biology 2007
Shai Kaplan Shalev Itzkovitz Ehud Y. Shapiro

Trinucleotide hereditary diseases such as Huntington disease and Friedreich ataxia are cureless diseases associated with inheriting an abnormally large number of DNA trinucleotide repeats in a gene. The genes associated with different diseases are unrelated and harbor a trinucleotide repeat in different functional regions; therefore, it is striking that many of these diseases have similar corre...

Journal: :Human molecular genetics 2013
Michele M P Lufino Ana M Silva Andrea H Németh Javier Alegre-Abarrategui Angela J Russell Richard Wade-Martins

Friedreich's ataxia (FRDA) is caused by large GAA expansions in intron 1 of the frataxin gene (FXN), which lead to reduced FXN expression through a mechanism not fully understood. Understanding such mechanism is essential for the identification of novel therapies for FRDA and this can be accelerated by the development of cell models which recapitulate the genomic context of the FXN locus and al...

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