Linkage to a known gene but no mutation identified: Comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause (2007)

Author(s): Beetz C, Zuchner S, Ashley-Koch A, Auer-Grumbach M, Byrne P, Chinnery PF, Hutchinson M, McDermott CJ, Meijer IA, Nygren AOH, Pericak-Vance M, Pyle A, Rouleau GA, Schickel J, Shaw PJ, Deufel T

      • Journal: Human Mutation
      • Volume: 28
      • Issue: 7
      • Pages: 739-740
      • Publication type: Letter
      • Bibliographic status: Published

      Professor Patrick Chinnery
      Institute Director