We report a novel mutation (1373C-T) in the SACS gene in a italian patient. Research has to continue to identify new mutations and expande the clinical spectrum of the "sacsinopathies".
A novel mutation of sacs gene in autosomic recessive spastic ataxia of charlevoix-saguenay in a Italian Patient
MONALDINI, Chiara;AZZINI, Cristiano Sebastiano;DELLA COLETTA, Elena;CAPONE, JAY GUIDO;PAOLINO, Ezio;SETTE, Elisabetta;CALABRESE, Olga;CALZOLARI, Ferdinando;TUGNOLI, Valeria;TOLA, Maria Rosaria;GRANIERI, Enrico Gavino Giuseppe
2007
Abstract
We report a novel mutation (1373C-T) in the SACS gene in a italian patient. Research has to continue to identify new mutations and expande the clinical spectrum of the "sacsinopathies".File in questo prodotto:
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