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Improved method for molecular diagnosis of myotonic dystrophy type 1 (DM1)
Myotonic dystrophy type 1 (DM1) has been identified as the amplification of a polymorphic (CTG)n repeat in the 3′ untranslated region of a gene encoding a serine/threonine kinase (DMPK). The length of the CTG repeat correlates with clinical severity and the age at onset of the disease. Thus, the abi...
Enregistré dans:
| Publié dans: | J Clin Lab Anal |
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| Auteurs principaux: | , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Wiley Subscription Services, Inc., A Wiley Company
2004
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6807958/ https://ncbi.nlm.nih.gov/pubmed/14730559 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.20004 |
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