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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...

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Detalles Bibliográficos
Autores principales:	Turner, Elizabeth M., Schlieker, Christian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Taylor & Francis 2016
Materias:	Addendum
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

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