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Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2
Facioscapulohumeral muscular dystrophy, known in genetic forms FSHD1 and FSHD2, is associated with D4Z4 repeat array chromatin relaxation and somatic derepression of DUX4 located in D4Z4. A complete copy of DUX4 is present on 4qA chromosomes, but not on the D4Z4-like repeats of chromosomes 4qB or 10...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Hum Mol Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Oxford University Press
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6168970/ https://ncbi.nlm.nih.gov/pubmed/30281091 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy236 |
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