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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...

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Detalhes bibliográficos
Publicado no:J Clin Lab Anal
Main Authors: Erginel‐Unaltuna, Nihan, Akbas, Fahri
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Subscription Services, Inc., A Wiley Company 2004
Assuntos:
Acesso em linha: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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