Annotation Detail
Information
- Associated Genes
- GAA
- Associated Variants
-
GAA MUTATION
GAA MUTATION - Associated Disease
- Friedreich ataxia
- Source Database
- DisGeNET
- Description
- Here, we discuss the feasibility of autologous transplantation in FRDA, highlighting the need for the successful isolation of the FRDA patient's bone marrow-derived mesenchymal stem cells, followed by characterization that these cells maintain the GAA repeat expansion and the reduced FXN mRNA expression, both hallmark features of FRDA.
- Pubmed
- 24962209
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0225296753826652
Drugs