Mouse Knockout of the Cholesterogenic Cytochrome P450 Lanosterol 14α-Demethylase (Cyp51) Resembles Antley-Bixler Syndrome

Antley-Bixler syndrome (ABS) represents a group of heterogeneous disorders characterized by skeletal, cardiac, and urogenital abnormalities that have frequently been associated with mutations in fibroblast growth factor receptor 2 or cytochrome P450 reductase genes. In some ABS patients, reduced act...

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Autori principali: Keber, Rok, Motaln, Helena, Wagner, Kay D., Debeljak, Nataša, Rassoulzadegan, Minoo, Ačimovič, Jure, Rozman, Damjana, Horvat, Simon
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2011
Soggetti:
Molecular Bases of Disease
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3190716/
https://ncbi.nlm.nih.gov/pubmed/21705796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.253245
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