Antoine Disset

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A nonsense mutation c.4250T>A (p.Leu1417X) in the dystrophin gene of a patient with an intermediate phenotype of muscular dystrophy induces partial in-frame skipping of exon 31. On the basis of UV(More)
The different alleles at the (TG)m(T)n polymorphic loci at the 3' end of the human CFTR intron 8 determine the efficiency by which exon 9 is spliced. We identified a novel TG12T3 allele in a(More)
UNLABELLED The Committee for the Assessment of Devices and Health Technologies (CEPP), one of the specialist committees of the French National Authority for Health (HAS), reassessed the use of(More)
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