Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleFunctional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.AuthorsNavarro‐Sastre, Aleix; García‐Silva, Maria Teresa; Martín‐Hernández, Elena; Lluch, Montserrat; Briones, Paz; Ribes, AntoniaPublicationJournal of Inherited Metabolic Disease, 2010, Vol 33, p293ISSN0141-8955Publication typeArticleDOI10.1007/s10545-010-9155-x