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Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations
Myotonic dystrophy type 1 (DM1) is caused by a CTG trinucleotide repeat expansion on chromosome 19q13.3. While DM1 premutation (36–50 repeats) and protomutation (51–80 repeats) allele carriers are mostly asymptomatic, offspring is at risk of inheriting expanded, symptom-associated, (CTG)n repeats of...
Tallennettuna:
| Julkaisussa: | Eur J Hum Genet |
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| Päätekijät: | , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Springer International Publishing
2020
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7316980/ https://ncbi.nlm.nih.gov/pubmed/32203199 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0601-4 |
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