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

Crossref DOI link: https://doi.org/10.1186/s12881-017-0508-2

Published Online: 2017-12-13

Published Print: 2017-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Cattaneo, Monica https://orcid.org/0000-0002-1866-5866
La Sala, Lucia

Rondinelli, Maurizio

Errichiello, Edoardo

Zuffardi, Orsetta

Puca, Annibale Alessandro

Genovese, Stefano

Ceriello, Antonio
Funding

Funding for this research was provided by:

Ministero della Salute (RF-2011-02348194)

Fondazione Invernizzi