Identification of two compound heterozygous VPS13A large deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis

by Derek Spieler, Antonio Velayos‐Baeza, Alžbeta Mühlbäck, Florian Castrop, Christian Maegerlein, Julia Slotta‐Huspenina, Benedikt Bader, Bernhard Haslinger, Adrian Danek
Published 2020-09-01

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

by Michael Zech, Georg Nübling, Florian Castrop, Angela Jochim, Eva C Schulte, Brit Mollenhauer, Peter Lichtner, Annette Peters, Christian Gieger, Thorsten Marquardt, Marie T Vanier, Philippe Latour, Hans Klünemann, Claudia Trenkwalder, Janine Diehl-Schmid, Robert Perneczky, Thomas Meitinger, Konrad Oexle, Bernhard Haslinger, Stefan Lorenzl, Juliane Winkelmann
Published 2013-01-01