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Age-related penetrance of the C9orf72 repeat expansion
A pathogenic hexanucleotide repeat expansion within the C9orf72 gene has been identified as the major cause of two neurodegenerative syndromes, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This mutation is known to have incomplete penetrance, with some patients developing d...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Sci Rep |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group UK
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5437033/ https://ncbi.nlm.nih.gov/pubmed/28522837 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-02364-1 |
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