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Functional analysis of the zebrafish ortholog of HMGCS1 reveals independent functions for cholesterol and isoprenoids in craniofacial development

There are 8 different human syndromes caused by mutations in the cholesterol synthesis pathway. A subset of these disorders such as Smith-Lemli-Opitz disorder, are associated with facial dysmorphia. However, the molecular and cellular mechanisms underlying such facial deficits are not fully understo...

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Pubblicato in:PLoS One
Autori principali: Quintana, Anita M., Hernandez, Jose A., Gonzalez, Cesar G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5501617/
https://ncbi.nlm.nih.gov/pubmed/28686747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0180856
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