Concepedia

New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)

Riitta Sallinen, Anna Vihola, Linda L. Bachinski, Kirsi Huoponen, Hannu Haapasalo, Peter Hackman, Shaozeng Zhang, Mario Sirito, Hannu Kalimo, G. Meola,

Neuromuscular Disorders · 2004 · 45 citations · 33 references

DOI

Concepts

References

33

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.

Daniel Pinkel, T. Straume, Joe W. Gray · Proceedings of the National Academy of Sciences · 1986 · 3.2K citations · Full text

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Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

J. David Brook, Mila E. McCurrach, H G Harley et al. · Cell · 1992 · 2.8K citations

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Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

Mani S. Mahadevan, Catherine Tsilfidis, Luc A. Sabourin et al. · Science · 1992 · 1.7K citations

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An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy

Ying‐Hui Fu, Antonio Pizzuti, Raymond G. Fenwick et al. · Science · 1992 · 1.5K citations

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Modulation of Non-Templated Nucleotide Addition by <i>Taq</i> DNA Polymerase: Primer Modifications that Facilitate Genotyping

Michael Brownstein, John D. Carpten, Jeffrey R. Smith · BioTechniques · 1996 · 1.3K citations · Full text

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