Publications:

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

Human Gene Therapy

Rendu, John J; Brocard, Julie J; Denarier, Eric E; Monnier, Nicole N; Piétri-Rouxel, France F; Beley, Cyriaque C; Roux-Buisson, Nathalie N; Gilbert-Dussardier, Brigitte B; Perez, Marie José MJ; Romero, Norma N; Garcia, Luis L; Lunardi, Joël J; Fauré, Julien J; Fourest-Lieuvin, Anne A; Marty, Isabelle I

Publication Date: 2013-07

Variant appearance in text: RYR1: 14646+2563C>T

PubMed Link: 23805838

Variant Present in the following documents:

• Main text

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