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New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).
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2004 (English)In: Neuromuscul Disord, ISSN 0960-8966, Vol. 14, no 4, 274-83 p.Article in journal (Refereed) Published
Place, publisher, year, edition, pages
2004. Vol. 14, no 4, 274-83 p.
Keyword [en]
Adult, Aged, Aged; 80 and over, Alleles, Biopsy/methods, Comparative Study, DNA Repeat Expansion/*genetics, Electrophoresis; Capillary/methods, Female, Humans, In Situ Hybridization; Fluorescence/methods, Indoles/metabolism, Linkage Disequilibrium, Male, Middle Aged, Molecular Diagnostic Techniques/*methods, Muscles/metabolism, Mutation, Myotonic Dystrophy/*diagnosis/*genetics, RNA; Messenger/biosynthesis, Research Support; Non-U.S. Gov't, Research Support; U.S. Gov't; P.H.S., Reverse Transcriptase Polymerase Chain Reaction/methods
URN: urn:nbn:se:uu:diva-73784PubMedID: 15019706OAI: oai:DiVA.org:uu-73784DiVA: diva2:101694
Available from: 2005-06-20 Created: 2005-06-20 Last updated: 2011-01-12

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Kalimo, H
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Department of Genetics and Pathology

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