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

Lookup NU author(s): Dr Phillip Byrne, Professor Patrick Chinnery, Dr Angela Pyle, Professor Pamela Shaw


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Publication metadata

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

Publication type: Letter

Publication status: Published

Journal: Human Mutation

Year: 2007

Volume: 28

Issue: 7

Pages: 739-740

Print publication date: 01/07/2007

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004


DOI: 10.1002/humu.20508