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Retinal Structure and Function in an Animal Model that Replicates the Biochemical Hallmarks of Desmosterolosis

Desmosterolosis is a rare, autosomal recessive, human disease characterized by multiple congenital anomalies in conjunction with grossly elevated levels of desmosterol and markedly reduced levels of cholesterol in all bodily tissues. Herein, we evaluated retinal sterol composition, histology, and el...

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Bibliografske podrobnosti
Main Authors: Fliesler, Steven J., Richards, Michael J., Miller, Chi-yen, Peachey, Neal S., Cenedella, Richard J.
Format: Artigo
Jezik:Inglês
Izdano: 2000
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2844951/
https://ncbi.nlm.nih.gov/pubmed/10905631
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