Publication
| Silva AM, Brown JM, Buckle VJ, Wade-Martins R, Lufino MM, Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells Human molecular genetics24:3457-71 2015 |
| PubMed ID: 25814655 |
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| Records Return:
(3)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM16209 | Female | 41 YR | 1916 | proband | FRIEDREICH ATAXIA 1; FRDA | GM |
| GM15851 | Male | 14 YR | 1842 | brother | FRIEDREICH ATAXIA 1; FRDA | GM |
| GM14519 | Female | | 1739 | mother | FRIEDREICH ATAXIA 1; FRDA | GM |
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