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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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Foilsithe in:Rare Dis
Main Authors: Turner, Elizabeth M., Schlieker, Christian
Formáid: Artigo
Teanga:Inglês
Foilsithe: Taylor & Francis 2016
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5077067/
https://ncbi.nlm.nih.gov/pubmed/27830109
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/21675511.2016.1241363
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