A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis

Author:

Chen Wen-Chau,Wu Kuo-Chen,Hu Chih-Hsiung,Jou I-Ming,Chern Tai-Chang

Publisher

Elsevier BV

Subject

Orthopedics and Sports Medicine,Surgery

Reference4 articles.

1. Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations;Moghadasian;Arch Neurol.,2002

2. A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis;Nakashima;J Lipid Res.,1994

3. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds;Moghadasian;Clin Invest Med.,2004

4. Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype;Guyant-Marechal;Am J Med Genet.,2005

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