LMNA mutations in atypical Werner's syndrome
Abstract
Werner's syndrome is a progeroid syndrome caused by mutations at the WRN helicase locus. Some features of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lamin A/C. Because of this similarity, we sequenced LMNA in individuals with atypical Werner's syndrome (wild-type WRN).Of 129 index patients referred to our international registry for molecular diagnosis of Werner's syndrome, 26 (20%) had wildtype WRN...
Paper Details
Title
LMNA mutations in atypical Werner's syndrome
Published Date
Aug 1, 2003
Journal
Volume
362
Issue
9382
Pages
440 - 445
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