Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.
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Review of RyR1 pathway and associated pathomechanismsIn silico screening based on predictive algorithms as a design tool for exon skipping oligonucleotides in Duchenne muscular dystrophyViral Vector-Mediated Antisense Therapy for Genetic Diseases.Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
P2860
Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Exon skipping as a therapeutic ...... ausing a severe core myopathy.
@en
Exon skipping as a therapeutic ...... ausing a severe core myopathy.
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type
label
Exon skipping as a therapeutic ...... ausing a severe core myopathy.
@en
Exon skipping as a therapeutic ...... ausing a severe core myopathy.
@nl
prefLabel
Exon skipping as a therapeutic ...... ausing a severe core myopathy.
@en
Exon skipping as a therapeutic ...... ausing a severe core myopathy.
@nl
P2093
P2860
P50
P356
P1433
P1476
Exon skipping as a therapeutic ...... causing a severe core myopathy
@en
P2093
Anne Fourest-Lieuvin
Cyriaque Beley
Isabelle Marty
John Rendu
Joël Lunardi
Luis Garcia
Marie José Perez
Nathalie Roux-Buisson
Nicole Monnier
Norma Romero
P2860
P304
P356
10.1089/HUM.2013.052
P577
2013-07-01T00:00:00Z