Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure

BACKGROUND: Progressive myoclonus epilepsies (PMEs) comprise a group of rare genetic disorders characterized by action myoclonus, epileptic seizures, and ataxia with progressive neurologic decline. Due to clinical and genetic heterogeneity of PMEs, it is difficult to decide which genes are affected....

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Detalles Bibliográficos
Autores principales: He, Jin, Lin, Han, Li, Jin-Jing, Su, Hui-Zhen, Wang, Dan-Ni, Lin, Yu, Wang, Ning, Chen, Wan-Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032684/
https://www.ncbi.nlm.nih.gov/pubmed/29941711
http://dx.doi.org/10.4103/0366-6999.235113

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032684/
https://www.ncbi.nlm.nih.gov/pubmed/29941711
http://dx.doi.org/10.4103/0366-6999.235113

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