A novel homozygous change of CLCN2...

Journal of Neurology Neurosurgery & Psychiatry 2017 / 05

A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)

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,
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Language:
english
Journal:
Journal of Neurology, Neurosurgery & Psychiatry
DOI:
10.1136/jnnp-2016-315525
Date:
May, 2017
File:
PDF, 2.83 MB
english, 2017
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