Two Rare Variants in PLAU and BACE1 Genes—Do They Contribute to Semantic Dementia Clinical Phenotype?

We have performed whole-genome sequencing to identify the genetic variants potentially contributing to the early-onset semantic dementia phenotype in a patient with family history of dementia and episodic memory deficit accompanied with profound semantic loss. Only very rare variants of unknown sign...

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Detalles Bibliográficos
Autores principales: Gaweda-Walerych, Katarzyna, Sitek, Emilia J., Borczyk, Małgorzata, Berdyński, Mariusz, Narożańska, Ewa, Brockhuis, Bogna, Korostyński, Michał, Sławek, Jarosław, Zekanowski, Cezary
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8624613/
https://www.ncbi.nlm.nih.gov/pubmed/34828412
http://dx.doi.org/10.3390/genes12111806

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8624613/
https://www.ncbi.nlm.nih.gov/pubmed/34828412
http://dx.doi.org/10.3390/genes12111806

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