We found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleNovel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.AuthorsOliveira J; Soares-Silva I; Fokkema I; Gonçalves A; Cabral A; Diogo L; Galán L; Guimarães A; Fineza I; den Dunnen JT; Santos RPublicationJournal of human genetics, 2008, Vol 53, Issue 6, p565ISSN1434-5161Publication typearticleDOI10.1007/s10038-008-0263-5