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 journalLetterpeer-review

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)

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