Concepedia

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

Francesca Magri, Alessandra Govoni, Maria Grazia D’Angelo, Roberto Del Bo, Serena Ghezzi, S. Gandossini, Anna Carla Turconi, Monica Sciacco, Patrizia Ciscato, Andreina Bordoni,

Journal of Neurology · 2011 · 189 citations · 33 references

DOI

Concepts

References

33

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

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Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

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PTC124 targets genetic disorders caused by nonsense mutations

Ellen Welch, Elisabeth R. Barton, Jin Zhuo et al. · Nature · 2007 · 1.1K citations

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Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation

Michelle Eagle, Simon Baudouin, Colin Chandler et al. · Neuromuscular Disorders · 2002 · 1K citations

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The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

Alan H. Beggs, Mary B. Moyer, S. Scherpf et al. · PubMed · 1989 · 961 citations

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