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

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

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...

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Main Authors: Monica Cattaneo (Author), Lucia La Sala (Author), Maurizio Rondinelli (Author), Edoardo Errichiello (Author), Orsetta Zuffardi (Author), Annibale Alessandro Puca (Author), Stefano Genovese (Author), Antonio Ceriello (Author)
Format: Book
Published: BMC, 2017-12-01T00:00:00Z.
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