A Japanese family with a novel nonsense mutation in the spastin gene associated with both cerebellar ataxia and cognitive impairment

Authors :: Yoshihisa Takiyama
Kazumasa Shindo
Aki Ishida
Mai Tsuchiya
Kishin Koh
Yuta Ichinose
Source :: Journal of the Neurological Sciences. 397:114-116
Publication Year :: 2019
Publisher :: Elsevier BV, 2019.

Subjects :: Genetics
Cerebellar ataxia
business.industry
media_common.quotation_subject
Nonsense mutation
Nonsense
Spastin
Neurology
DNA Mutational Analysis
medicine
Neurology (clinical)
medicine.symptom
Cognitive impairment
business
Gene
media_common

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