Linkage to a known gene but no mutation identified: Comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause

Christian Beetz, Stephan Zuchner, Allison Ashley-Koch, Michaela Auer-Grumbach, Paula Byrne, Patrick F. Chinnery, Michael Hutchinson, Christopher J. McDermott, Inge A. Meijer, Anders O.H. Nygren, Margaret Pericak-Vance, Angela Pyle, Guy A. Rouleau, Jörg Schickel, Pamela J. Shaw, Thomas Deufel

Research output: Contribution to journalLetter

10 Scopus citations
Original languageEnglish (US)
Pages (from-to)739-740
Number of pages2
JournalHuman mutation
Volume28
Issue number7
DOIs
StatePublished - Jul 1 2007
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Beetz, C., Zuchner, S., Ashley-Koch, A., Auer-Grumbach, M., Byrne, P., Chinnery, P. F., Hutchinson, M., McDermott, C. J., Meijer, I. A., Nygren, A. O. H., Pericak-Vance, M., Pyle, A., Rouleau, G. A., Schickel, J., Shaw, P. J., & Deufel, T. (2007). Linkage to a known gene but no mutation identified: Comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. Human mutation, 28(7), 739-740. https://doi.org/10.1002/humu.20508