charlevoix-saguenay相关论文
Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consan
BACKGROUND Familial cases of autosomal recessive spastic ataxia of charlevoix-saguenay have not been reported in the Ara......
Charlevoix-Saguenay常染色体隐性遗传性痉挛性共济失调(ARSACS)是一种特殊形式的早发性的痉挛性共济失调,是由SACS基因的纯合和复......