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High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis

BACKGROUND: Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansions in the DMPK gene and is the most common form of muscular dystrophy. Patients can have long delays from onset to diagnosis, since clinical signs and symptoms are often nonspecific and overlapping with other disorders. Clin...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Butterfield, Russell J., Imburgia, Carina, Mayne, Katie, Newcomb, Tara, Dunn, Diane M., Duval, Brett, Feldkamp, Marcia L., Johnson, Nicholas E., Weiss, Robert B.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8123750/
https://ncbi.nlm.nih.gov/pubmed/33624941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1619
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