French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.

The molecular basis of myotonic dystrophy (DM) has been characterised. All DM mutations characterised to date appear as an unstable elongation of a fragment containing a tandem repeat of a CTG motif, which can be visualised in both EcoRI and BamHI digests. It has been shown that the fragment is poly...

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Autores principales: Lavedan, C, Hofmann-Radvanyi, H, Boileau, C, Bonaïti-Pellié, C, Savoy, D, Shelbourne, P, Duros, C, Rabes, J P, Dehaupas, I, Luce, S
Formato: Artigo
Lenguaje:Inglês
Publicado: 1994
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049595/
https://ncbi.nlm.nih.gov/pubmed/8151634
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