Two Rare Variants in <i>PLAU</i> and <i>BACE1</i> 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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Katarzyna Gaweda-Walerych, Emilia J. Sitek, Małgorzata Borczyk, Mariusz Berdyński, Ewa Narożańska, Bogna Brockhuis, Michał Korostyński, Jarosław Sławek, Cezary Zekanowski
Format: article
Langue:EN
Publié: MDPI AG 2021
Sujets:
Accès en ligne:https://doaj.org/article/7b78f7f8998b42bda6cc78ab736d41a2
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!