Identification of two compound heterozygousVPS13Alarge deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis

Spieler D., Velayos‐Baeza A., Mühlbäck A., Castrop F., Maegerlein C., Slotta‐Huspenina J., Bader B., Haslinger B., Danek A.

DOI

10.1002/mgg3.1179

Type

Journal article

Journal

Molecular Genetics & Genomic Medicine

Publisher

Wiley

Publication Date

09/2020

Volume

8

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