Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family

DM1 is an autosomal dominant multisystemic disease caused by an unstable CTG repeat expansion in the 3’-untranslated region (UTR) of the DMPK gene. The complex variant DMPK expanded the alleles containing CAG, CCG, CTC and/or GGC interruptions repetition sequences have been reported in 3-8% of DM1 p...

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Detalles Bibliográficos
Autores principales: Fontana, Luana, Santoro, Massimo, D’Apice, Maria Rosaria, Peluso, Francesca, Gori, Giulia, Morrone, Amelia, Novelli, Giuseppe, Dosa, Laura, Botta, Annalisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315898/
https://www.ncbi.nlm.nih.gov/pubmed/32607474
http://dx.doi.org/10.36185/2532-1900-002

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