Cargando…

Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism

Lamin B Receptor (LBR) is an inner nuclear membrane protein associated with the rare human diseases Pelger-Huët anomaly and Greenberg skeletal dysplasia. A new study has used CRISPR/Cas9-mediated genetic manipulations in a human cell system to determine that the molecular etiology of these previousl...

Descripción completa

Detalles Bibliográficos
Autores principales: Turner, Elizabeth M., Schlieker, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5077067/
https://www.ncbi.nlm.nih.gov/pubmed/27830109
http://dx.doi.org/10.1080/21675511.2016.1241363