Four novel CYP27A1 mutations in seven Italian patients with CTX
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1468-1331.2010.03002.x/fullpdf
Reference10 articles.
1. Mechanism of degradation of the steroid side chain in the formation of bile acids;Björkhem;J Lipid Res,1992
2. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis;Verrips;Brain,2000
3. Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy;Federico;J Child Neurol,2003
4. Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis;Cali;J Biol Chem,1991
5. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene;Gallus;Neurol Sci,2006
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