Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

Nuclear envelopathies comprise a heterogeneous group of diseases caused by mutations in genes encoding nuclear envelope proteins. Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and progressive dystonia with cerebellar atrophy. We re...

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Detalles Bibliográficos
Autores principales: Fichtman, Boris, Zagairy, Fadia, Biran, Nitzan, Barsheshet, Yiftah, Chervinsky, Elena, Ben Neriah, Ziva, Shaag, Avraham, Assa, Michael, Elpeleg, Orly, Harel, Amnon, Spiegel, Ronen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363790/
https://www.ncbi.nlm.nih.gov/pubmed/30723199
http://dx.doi.org/10.1038/s41467-019-08493-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363790/
https://www.ncbi.nlm.nih.gov/pubmed/30723199
http://dx.doi.org/10.1038/s41467-019-08493-7

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