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Zebrafish models of skeletal dysplasia induced by cholesterol biosynthesis deficiency

Human disorders of the post-squalene cholesterol biosynthesis pathway frequently result in skeletal abnormalities, yet our understanding of the mechanisms involved is limited. In a forward-genetic approach, we have found that a late-onset skeletal mutant, named koliber(nu7), is the result of a cis-a...

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Dettagli Bibliografici
Pubblicato in:Dis Model Mech
Autori principali: Anderson, Rebecca A., Schwalbach, Kevin T., Mui, Stephanie R., LeClair, Elizabeth E., Topczewska, Jolanta M., Topczewski, Jacek
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Company of Biologists Ltd 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7328163/
https://ncbi.nlm.nih.gov/pubmed/32430393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.042549
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