KEGG   VARIANT: 4001v1
Entry
4001v1                      Variant                                
Name
LMNB1 duplication
Type
Gain of function
Gene
LMNB1  lamin B1 [KO:K07611]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
duplications
OmimVar: 150340
Network
nt06539  Cytoskeleton in muscle cells
Disease
H01230  Adult-onset autosomal dominant leukodystrophy
Reference
PMID:16951681
  Authors
Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptacek LJ, Fu YH
  Title
Lamin B1 duplications cause autosomal dominant leukodystrophy.
  Journal
Nat Genet 38:1114-23 (2006)
DOI:10.1038/ng1872
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