Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family

Mutations in the inositol 1,4,5-triphosphate receptor type 1 gene (ITPR1) lead to SCA15, SCA16, and SCA29. To date, only a few families with SCA29 have been reported. A three-generation Chinese family including four affected persons and two unaffected persons were enrolled in this study. We conducte...

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Detalles Bibliográficos
Autores principales: Wang, Li, Hao, Ying, Yu, Peng, Cao, Zhenhua, Zhang, Jin, Zhang, Xin, Chen, Yuanyuan, Zhang, Hao, Gu, Weihong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2017
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966481/
https://www.ncbi.nlm.nih.gov/pubmed/29196976
http://dx.doi.org/10.1007/s12311-017-0896-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966481/
https://www.ncbi.nlm.nih.gov/pubmed/29196976
http://dx.doi.org/10.1007/s12311-017-0896-z

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