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C9ORF72 repeat expansions in cases with previously identified pathogenic mutations
OBJECTIVE: To identify potential genetic modifiers contributing to the phenotypic variability that is detected in patients with repeat expansions in chromosome 9 open reading frame 72 (C9ORF72), we investigated the frequency of these expansions in a cohort of 334 subjects previously found to carry m...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Lippincott Williams & Wilkins
2013
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3806926/ https://ncbi.nlm.nih.gov/pubmed/24027057 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182a8250c |
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