ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.

M I ShadrinaMarina V ShulskayaS A KlyushnikovT NikopensiusM NelisP A KivistikA A KomarS A LimborskaS N IllarioshkinP A Slominsky

Published in: Cerebellum & ataxias (2016)

Our study confirms the fact that ITPR1 gene plays a certain role in the pathogenesis of SCAs, and, therefore, we suggest that c.4657G>A p.Val1553Met) is a disease-causing mutation in the family studied.

Keyphrases

copy number
genome wide
tyrosine kinase
genome wide identification
transcription factor