Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype
Eur J Hum Genet
.
2018 Jul;26(7):928-929.
doi: 10.1038/s41431-018-0158-7.
Epub 2018 May 25.
Authors
Sara Nuovo
1
2
,
Alessia Micalizzi
1
,
Stefano D'Arrigo
3
,
Monia Ginevrino
1
4
,
Tommaso Biagini
5
,
Tommaso Mazza
5
,
Enza Maria Valente
6
7
Affiliations
1
Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy.
2
Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
3
Developmental Neurology Division, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.
4
Deparment of Molecular Medicine, University of Pavia, Pavia, Italy.
5
Laboratory of Bioinformatics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
6
Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome, Italy. enzamaria.valente@unipv.it.
7
Deparment of Molecular Medicine, University of Pavia, Pavia, Italy. enzamaria.valente@unipv.it.
PMID:
29795474
PMCID:
PMC6018709
DOI:
10.1038/s41431-018-0158-7
No abstract available
Publication types
Letter
Research Support, Non-U.S. Gov't
Comment
MeSH terms
Alleles*
Mutation*
Phenotype