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P18 Variant triplet repeats in the CTG expansion of DMPK affect stability of the expanded region and may contribute to unusual symptoms observed in some myotonic dystrophy type 1 cases

Document Type

Abstract

Author

Braida, C.; Stapleton, G.; Neil, F.; Rhadvanyi, H.; Philippe, C.; Finsterer, J.; Schraen-Maschke, S.; Gallano, P.; Warner, J.; Longman, C.; Hilton-Jones, D.; Brunner, H.; Kamsteeg, E.-J.; Berland, S.; Catalli, C.; Botta, A.; Monckton, D.G.

Source

In Neuromuscular Disorders 2010 20 Supplement 1:S10-S10

Subject

Posters

Language

ISSN

0960-8966

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

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