Research & Innovation
Publications
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
PMU Authors
Saskia Wortmann, René Feichtinger, Celina von Stülpnagel, Johannes A. Mayr
All Authors
Saskia Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, René Feichtinger, Matias Wagner, Jacqui Russell, Carolyn Ellaway, Dagmara Mróz, Hubert Wyszkowski, Denisa Weis, Iris Hannibal, Celina von Stülpnagel, Alfredo Cabrera-Orefice, Uta Lichter-Konecki, Jenna Gaesser, Randy Windreich, Kasiani C Myers, Robert Lorsbach, Russell C Dale, Søren Gersting, Carlos E Prada, John Christodoulou, Nicole I Wolf, Hanka Venselaar, Johannes A. Mayr, Ron A Wevers
Journal association
GENETICS IN MEDICINE
Abstract
Keywords
PROTEIN, MUTATIONS, DOMAIN, SUBSTRATE, HSP104