Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Journal of Medical Genetics Année : 2010

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

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hal-03993892 , version 1 (17-02-2023)

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K. Gaudon, I. Penisson-Besnier, B. Chabrol, F. Bouhour, L. Demay, et al.. Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing. Journal of Medical Genetics, 2010, 47 (12), pp.795-796. ⟨10.1136/jmg.2010.081034⟩. ⟨hal-03993892⟩
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