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Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family
Palmio, Johanna, Kärppä, Mikko, Baumann, Peter, Penttilä, Sini, Moilanen, Jukka, Udd, BjarneVolume:
4
Language:
english
Journal:
Clinical Case Reports
DOI:
10.1002/ccr3.722
Date:
December, 2016
File:
PDF, 621 KB
english, 2016