A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous system demyelination. However, we previously reported...

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Publicado no:Hum Mol Genet
Main Authors: Giorgio, Elisa, Robyr, Daniel, Spielmann, Malte, Ferrero, Enza, Di Gregorio, Eleonora, Imperiale, Daniele, Vaula, Giovanna, Stamoulis, Georgios, Santoni, Federico, Atzori, Cristiana, Gasparini, Laura, Ferrera, Denise, Canale, Claudio, Guipponi, Michel, Pennacchio, Len A., Antonarakis, Stylianos E., Brussino, Alessandro, Brusco, Alfredo
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4424952/
https://ncbi.nlm.nih.gov/pubmed/25701871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv065
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