טוען...
MutLα Heterodimers Modify the Molecular Phenotype of Friedreich Ataxia
BACKGROUND: Friedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression. Studies of cell and mouse models have revealed a role for the mismatch rep...
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| Main Authors: | , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Public Library of Science
2014
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4074104/ https://ncbi.nlm.nih.gov/pubmed/24971578 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0100523 |
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