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

Monica Cattaneo; Lucia La Sala; Maurizio Rondinelli; Edoardo Errichiello; Orsetta Zuffardi; Annibale Alessandro Puca; Stefano Genovese; Antonio Ceriello

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

Monica Cattaneo, Lucia La Sala, Maurizio Rondinelli, Edoardo Errichiello, Orsetta Zuffardi, Annibale Alessandro Puca, Stefano Genovese, Antonio Ceriello

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	BMC Medical Genetics
Publication status	Published - 2017

Cite this

A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients. / Cattaneo, Monica; La Sala, Lucia; Rondinelli, Maurizio; Errichiello, Edoardo; Zuffardi, Orsetta; Puca, Annibale Alessandro ; Genovese, Stefano ; Ceriello, Antonio.

In: BMC Medical Genetics, 2017.

Research output: Contribution to journal › Article › peer-review

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

author = "Monica Cattaneo and {La Sala}, Lucia and Maurizio Rondinelli and Edoardo Errichiello and Orsetta Zuffardi and Puca, {Annibale Alessandro} and Stefano Genovese and Antonio Ceriello",

year = "2017",

language = "English",

journal = "BMC Medical Genetics",

issn = "1471-2350",

publisher = "BioMed Central",

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TY - JOUR

T1 - A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.

AU - Cattaneo, Monica

AU - La Sala, Lucia

AU - Rondinelli, Maurizio

AU - Errichiello, Edoardo

AU - Zuffardi, Orsetta

AU - Puca, Annibale Alessandro

AU - Genovese, Stefano

AU - Ceriello, Antonio

PY - 2017

Y1 - 2017

M3 - Article

JO - BMC Medical Genetics

JF - BMC Medical Genetics

SN - 1471-2350

ER -