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Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes
Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited disorder caused by expansion of a germline and somatically unstable CTG repeat in the DMPK gene. Previously, CTG repeat length at birth has been correlated to patient age at symptom onset. Attempts to correlate CTG repeat length with...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Hum Mol Genet |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Oxford University Press
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6586140/ https://ncbi.nlm.nih.gov/pubmed/31220271 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz055 |
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