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Mutations in the sterol 27-hydroxylase gene(CYP27)cause cerebrotendinous xanthomatosis(CTX).Early diagnosis of CTX is crucial because treatment with chenodeoxycholic acid can prevent or reverse some of the neurologic disability associated with the disease.We report the identification of three types of mutations(Arg441Trp,Arg 372 Gln,and Arg441Gln)in the CYP27 gene in five patients with suspected CTX from four unrelated families by restriction endonuclease analysis. |
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