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Beschreibung
My research is focused on the repeat expansion disorders, a family of disorders that result from the repetitive microsatellite sequence within the gene. In particular, this thesis investigates two non-coding repeat expansion disorders: C9orf72-associated Amyotrophic Lateral Sclerosis (C9-ALS) and the Fragile X Syndrome (FXS). Our group was the first to report the presence of 5-hydroxymethylcytosine, a novel epigenetic mark and active DNA demethylation intermediate, at the expanded loci of patients with C9-ALS and FXS.
Details
| Verlag | Scholars' Press |
| Ersterscheinung | 14. Juni 2017 |
| Maße | 22 cm x 15 cm x 0.9 cm |
| Gewicht | 215 Gramm |
| Format | Softcover |
| ISBN-13 | 9783330653122 |
| Seiten | 132 |
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