A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
Academic Article
Publication Date:
2017
Iris type:
1.1 Articolo in rivista
Keywords:
CLCN2; ClC-2; LKPAT; intramyelinic edema; leukoencephalopathy
List of contributors:
Giorgio, Elisa; Vaula, Giovanna; Benna, Paolo; LO BUONO, Nicola; Eandi, Chiara Maria; Dino, Daniele; Mancini, Cecilia; Cavalieri, Simona; DI GREGORIO, Eleonora; Pozzi, Elisa; Ferrero, Marta; Giordana, Maria Teresa; Depienne, Christel; Brusco, Alfredo
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