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Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa

In the present study, we investigated the genetic variation in a family with acute encephalopathy and retinitis pigmentosa. Nine of 25 people in this family underwent genetic testing. Three family members, namely, the proband and the proband's two sisters, showed symptoms resembling those of me...

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Detalles Bibliográficos
Autores principales:	You, Chunlin, Zeng, Weike, Deng, Lingna, Lei, Zhihao, Gao, Xinyi, Zhang, Victor Wei, Wang, Yidong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214681/ https://www.ncbi.nlm.nih.gov/pubmed/32431660 http://dx.doi.org/10.3389/fneur.2020.00319

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