Concepedia

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

Rosário Santos, Jorge Oliveira, Emília Vieira, Teresa Coelho, António Leite Carneiro, Teresinha Evangelista, Cristina Dias, Ana María Fortuna, Argemiro Geraldo, Luís Negrão,

Journal of Human Genetics · 2010 · 14 citations · 15 references

DOI

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15

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

Kenneth J. Livak, Thomas D. Schmittgen · Methods · 2001 · 181.5K citations

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Arlequin (version 3.0): an integrated software package for population genetics data analysis.

Laurent Excoffier, Guillaume Laval, Stefan Schneider · PubMed · 2007 · 12.9K citations · Full text

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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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Defective membrane repair in dysferlin-deficient muscular dystrophy

Dimple Bansal, Katsuya Miyake, Steven S. Vogel et al. · Nature · 2003 · 1K citations

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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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