A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

• المؤلفون الرئيسيون: Monica Cattaneo (مؤلف), Lucia La Sala (مؤلف), Maurizio Rondinelli (مؤلف), Edoardo Errichiello (مؤلف), Orsetta Zuffardi (مؤلف), Annibale Alessandro Puca (مؤلف), Stefano Genovese (مؤلف), Antonio Ceriello (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2017-12-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Abstract Background Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellitus, optic atrophy, peptic ulcer bleeding and defective platelet aggr...