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A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia

Abstract
Publication Date:
2012
Iris type:
01.05 Abstract in rivista
List of contributors:
Ungaro, Carmine; Citrigno, Luigi; Mazzei, Rosalucia; Conforti, FRANCESCA LUISA; Patitucci, Alessandra; Magariello, Angela; Liguori, Maria; Muglia, Maria
Authors of the University:
CITRIGNO LUIGI
LIGUORI MARIA
MAGARIELLO ANGELA
MAZZEI ROSALUCIA
PATITUCCI ALESSANDRA
UNGARO CARMINE
Handle:
https://iris.cnr.it/handle/20.500.14243/275732
Published in:
EUROPEAN JOURNAL OF HUMAN GENETICS (ONLINE)
Journal
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