Concepedia

Calpainopathy—A Survey of Mutations and Polymorphisms

Carinne Roudaut, Amets Sáenz, Robert Pogue, Joke Grimbergen, Louise V.B. Anderson, Cyriaque Beley, A.-M. Cobo, Chiappe Diego, B. Eymard, P. Gallano,

The American Journal of Human Genetics · 1999 · 206 citations · 38 references

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38

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 997 citations · Full text

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Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Jing Liu, Masashi Aoki, Isabel Illa et al. · Nature Genetics · 1998 · 919 citations

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Exon definition may facilitate splice site selection in RNAs with multiple exons.

Barbara Robberson, Gilbert J. Cote, Susan M. Berget · Molecular and Cellular Biology · 1990 · 712 citations · Full text

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