Crossmark

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis

Crossref DOI link: https://doi.org/10.1038/s10038-018-0423-1

Published Online: 2018-03-12

Published Print: 2018-05

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

Authors

Catania, Alessia

Ardissone, Anna

Verrigni, Daniela

Legati, Andrea

Reyes, Aurelio

Lamantea, Eleonora

Diodato, Daria http://orcid.org/0000-0003-3607-8523
Tonduti, Davide

Imperatore, Valentina

Pinto, Anna Maria

Moroni, Isabella

Bertini, Enrico

Robinson, Alan

Carrozzo, Rosalba

Zeviani, Massimo

Ghezzi, Daniele http://orcid.org/0000-0002-6564-3766
License Information

Text and Data Mining valid from 2018-03-12
More Information

Article History

Received: 5 September 2017

Revised: 9 January 2018

Accepted: 24 January 2018

First Online: 12 March 2018

Compliance with ethical standards

:

: The authors declare that they have no conflict of interest.