Mutations in the Bile Acid Biosynthetic Enzyme Sterol 27-Hydroxylase Underlie Cerebrotendinous Xanthomatosis()

The sterol storage disorder cerebrotendinous xanthomatosis (CTX) is characterized by abnormal deposition of cholesterol and cholestanol in multiple tissues. Deposition in the central nervous system leads to neurological dysfunction marked by dementia, spinal cord paresis, and cerebellar ataxia. Depo...

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Bibliographic Details
Published in:J Biol Chem
Main Authors: Cali, James J., Hsieh, Chih-Lin, Francke, Uta, Russell, David W.
Format: Artigo
Language:Inglês
Published: 1991
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4449724/
https://ncbi.nlm.nih.gov/pubmed/2019602
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