*Result*: Identification of two compound heterozygous VPS13A large deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis
*Author/editor-in-chief*:
Spieler, Derek (Verfasser) ; Velayos‐Baeza, Antonio (Verfasser); Mühlbäck, Alžbeta (Verfasser); Castrop, Florian (Verfasser); Maegerlein, Christian (Verfasser) ; Slotta-Huspenina, Julia (Verfasser) ; Bader, Benedikt Ludwig Wassilij (Verfasser) ; Haslinger, Bernhard A. (Verfasser) ; Danek, Adrian (Verfasser)
*Publication*:
Freiburg : Universität, 2021
*Physical description scale*:
Online-Ressource
*Format*:
*Language*:
*eng*
*Notes*:
Molecular genetics & genomic medicine
8, 9 (2020) , e1179, ISSN: 2324-9269
8, 9 (2020) , e1179, ISSN: 2324-9269
*DOI*:
10.1002/mgg3.1179