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Archive ouverte | Miro, J. | CCSD

International audience. We investigated the molecular mechanisms for in-frame skipping of DMD exon 39 caused by the nonsense c.5480T>A mutation in a patient with Becker muscular dystrophy. RNase-assisted pull down a...

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Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience

Archive ouverte | Girardet, A. | CCSD

International audience. This study provides an overview of 10 years of experience of preimplantation genetic diagnosis (PGD) for cystic fibrosis (CF) in our center. Owing to the high allelic heterogeneity of CF tran...

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