Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Christian Windpassinger(Medical University of Graz), Michaela Auer‐Grumbach(Medical University of Graz), Joy Irobi(University of Antwerp), Heema Patel(St George's, University of London), Erwin Petek(Medical University of Graz), Gerd Hörl(Medical University of Graz), Roland Malli(Medical University of Graz), Johanna A. Reed(St George's Hospital), Ines Dierick(University of Antwerp), Nathalie Verpoorten(University of Antwerp), Thomas T. Warner(University College London), Christos Proukakis(Roland Hill (United Kingdom)), Peter Van den Bergh(Cliniques Universitaires Saint-Luc), Christine Verellen(Cliniques Universitaires Saint-Luc), Lionel Van Maldergem(Institute of Pathology and Genetics), Luciano Merlini(Istituto Ortopedico Rizzoli), Peter De Jonghe(University of Antwerp), Vincent Timmerman(University of Antwerp), Andrew H. Crosby(St George's Hospital), Klaus Wagner(Medical University of Graz)
Nature Genetics
February 22, 2004
Cited by 378Open Access
Full Text

Abstract


Related Papers

No related papers found

Powered by citation graph analysis