New pathogenic mutation of chorea-acanthocytosis.
Sign Up to like & getrecommendations! Published in 2018 at "Neurologia"
DOI: 10.1016/j.nrl.2018.03.012
Abstract: Chorea-acanthocytosis (ChA) is an autosomal recessive disease caused by a mutation in the VPS13A gene, located on chromosome 9q21 and coding for the protein chorein. Chorein is a protein of 3000 amino acids, involved in… read more here.
Keywords: pathogenic mutation; chorea acanthocytosis; acanthocytosis; new pathogenic ... See more keywords
A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View.
Sign Up to like & getrecommendations! Published in 2022 at "Acta dermato-venereologica"
DOI: 10.2340/actadv.v102.919
Abstract: Abstract is missing (Short communication) read more here.
Keywords: dyskeratosis congenita; rtel1 gene; pathogenic variant; new pathogenic ... See more keywords