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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
Author(s) -
Beetz Christian,
Zuchner Stephan,
AshleyKoch Allison,
AuerGrumbach Michaela,
Byrne Paula,
Chinnery Patrick F.,
Hutchinson Michael,
McDermott Christopher J.,
Meijer Inge A.,
Nygren Anders O.H.,
PericakVance Margaret,
Pyle Angela,
Rouleau Guy A.,
Schickel Jörg,
Shaw Pamela J.,
Deufel Thomas
Publication year - 2007
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20508
Subject(s) - pedigree chart , library science , genetics , biology , gene , computer science