RNF13 Dileucine Motif Variants L311S and L312P Interfere with Endosomal Localization and AP-3 Complex Association
Developmental and epileptic encephalopathies (DEE) are rare and serious neurological disorders characterized by severe epilepsy with refractory seizures and a significant developmental delay. Recently, DEE73 was linked to genetic alterations of the RNF13 gene, which convert positions 311 or 312 in t...
Enregistré dans:
Auteurs principaux: | , , , , , , |
---|---|
Format: | article |
Langue: | EN |
Publié: |
MDPI AG
2021
|
Sujets: | |
Accès en ligne: | https://doaj.org/article/19041a9cefa4484d8aa32a40fe48c868 |
Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|