Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees

Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid biosynthesis. Clinically, CTX patients present with tendon xanthomas, juvenile cataracts, and progressive neurological dysfunction and can be diagnosed by the detection of elevated plasma cholestanol levels. CTX...

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Bibliographic Details
Main Authors: Mi-Hye Lee, Starr Hazard, John D. Carpten, Sonia Yi, Jonathan Cohen, Glenn T. Gerhardt, Gerald Salen, Shailendra B. Patel
Format: Article
Language:English
Published: Elsevier 2001-02-01
Series:Journal of Lipid Research
Subjects:
genetics
cholesterol
cholestanol
bile acids
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520316758

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http://www.sciencedirect.com/science/article/pii/S0022227520316758

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